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To investigate the potential causal relationship between ulcerative colitis and nephrotic syndrome. We obtained the whole-genome association study data of ulcerative colitis in the European population from the GWAS database. Relevant single nucleotide polymorphisms (SNPs) were selected for analysis. We employed the inverse variance-weighted meta-analysis of multiplicative random effects models to obtain SNP-specific Wald ratio estimates, which assume horizontal pleiotropy. In addition, we performed sensitivity analyses using MR-Egger, weighted median, and IVW. Our findings suggest a strong association between ulcerative colitis and nephrotic syndrome (P < 0.05). After conducting sensitivity analyses, we found no evidence of horizontal pleiotropy or heterogeneity (P > 0.05). This study provides evidence for an association between ulcerative colitis and nephrotic syndrome, which may help us better understand the conditions of ulcerative colitis and nephropathy. [ABSTRACT FROM AUTHOR]

Nephrotic syndrome is a clinical syndrome characterized by massive proteinuria, called nephrotic range proteinuria (over 3.5 g per day in adults or 40 mg/m2 per hour in children), hypoalbuminemia, oncotic edema, and hyperlipidemia, with an increasing incidence over several years. Nephrotic syndrome carries severe morbidity and mortality risk. The main pathophysiological event in nephrotic syndrome is increased glomerular permeability due to immunological, paraneoplastic, genetic, or infective triggers. Because of the marked increase in the glomerular permeability to macromolecules and the associated urinary loss of albumins and hormone-binding proteins, many metabolic and endocrine abnormalities are present. Some of them are well known, such as overt or subclinical hypothyroidism, growth hormone depletion, lack of testosterone, vitamin D, and calcium deficiency. The exact prevalence of these disorders is unknown because of the complexity of the human endocrine system and the differences in their prevalence. This review aims to comprehensively analyze all potential endocrine and hormonal complications of nephrotic syndrome and, vice versa, possible kidney complications of endocrine diseases that might remain unrecognized in everyday clinical practice. [ABSTRACT FROM AUTHOR]

Objective: There is limited evidence on which immunosuppressive agents produce the best outcomes for adult patients with steroid-dependent or frequently relapsing nephrotic syndrome (SDNS/FRNS). This review compares the remission rate and adverse effects of various immunosuppressants used. Methods: Studies of adult patients with biopsy-proven SDNS/FRNS, administered any immunosuppressive agents and reported complete remission results as one of the clinical outcomes were included. Articles were independently screened by two researchers. ROBINS-I was used for risk of bias assessment. Random-effects model was used for statistical analysis and corresponding 95% confidence intervals (CIs) were calculated. Results: 574 patients across 28 studies were included in the analysis. Patients receiving rituximab have a complete remission rate of 89% (95% CI = 83% to 94%; τ2 = 0.0070; I2 = 62%; overall p < 0.01, low certainty) and adverse event rate of 0.26, cyclosporine (CR 40%; 95% CI = 21% to 59%; τ2 = 0.0205; I2 = 55%; overall p = 0.08, low certainty), tacrolimus (CR 84%; 95% CI = 70% to 98%; τ2 = 0.0060; I2 = 33%; overall p = 0.21, moderate certainty), mycophenolate mofetil (CR 82%; 95% CI = 74% to 90%; τ2 < 0.0001; I2 = 15%; overall p = 0.32, moderate certainty) and cyclophosphamide (CR 79%; 95% CI = 69% to 89%; τ2 = 0; I2 = 0%; overall p = 0.52, moderate certainty). Conclusion: Among the commonly used immunosuppressive agents, only rituximab has a statistically significant effect in achieving complete remission among patients with SDNS/FRNS and has a relatively good safety profile, but this is limited by low quality of evidence with high degree of heterogeneity causing a lack of statistical power. [ABSTRACT FROM AUTHOR]

The differences between the serum albumin determined by bromocresol green (BCG) and immunonephelometry (IN) were inconsistent in past studies, and the samples were all adults. We sought to determine the differences in children and reveal the impacts of these differences on the clinical diagnosis and treatments of primary nephrotic syndrome (PNS). Repeated measurements from 576 PNS children showed that albumin measured by BCG and IN (ALB-B and ALB-I) were 19.95 (11.15) g/L and 15.30 (11.05) g/L, respectively, and the mean difference was 4.68 g/L (P < 0.001). The cut-offs we calculated for hypoalbuminemia and severe hypoalbuminemia based on the IN were 25 and 15 g/L, which were 5 g/L lower than the cut-offs recommended by KIDGO, respectively. A pair of historical control samples (206 vs. 216) with ALB-B or ALB-I showed that the proportion of severe hypoalbuminemia was 14.60% greater in IN group (75.20% vs. 60.60%, P < 0.001). The misdiagnosis rate of severe hypoalbuminemia by IN was 33.77% when 20 g/L rather than 15 g/L was used as the cut-off. Furthermore, the proportion of patients receiving albumin injections increased by 10.20%, and the average consumption increased by 97.06% (P = 0.01) along with the use of IN. So, our results suggested that the difference between ALB-B and ALB-I led to misdiagnosis and prescription abuse in PNS children. [ABSTRACT FROM AUTHOR]

Background: Adolescents with Nephrotic Syndrome (NS) confront unique challenges that influence their Meaning of Life (MOL), a concept crucial for psychological resilience. The chronic nature of NS and its associated burdens necessitate a deeper exploration of MOL and its determinants within this demographic, previously underexamined in research. This study aims to investigate MOL among Chinese adolescents with NS, identifying key factors influencing their sense of meaning and examining the interrelations with Subjective Well-Being (SWB) and Psychological Security (PS). Methods: Employing a cross-sectional survey design, we analyzed 150 adolescents with NS from Baise City, Guangxi, using the Purpose in Life (PIL) scale alongside PS and SWB scales. Sociodemographic and disease-related variables were assessed for their impact on MOL. Data analysis included descriptive statistics, multiple linear regression, and correlation analyses to explore predictors of MOL and its association with SWB and PS. Results: A significant proportion (62.0%) of participants exhibited MOL scores below the threshold, indicating diminished life meaning. Critical factors impacting MOL included ‘left-behind’ status, family structure, educational disruptions, and NS duration. Strong correlations emerged between MOL, SWB (r  =  0.70, p  <  0.01), and PS, highlighting the interdependence of these psychological dimensions. The study further revealed ‘Proactivity’ as a vital component of MOL, suggesting that despite their challenges, adolescents with NS maintain a keen engagement with life. Key aspects such as ‘Certainty in Control’, ‘Mood of Melancholy or Pleasure’, and ‘Vitality’ emerged as crucial for intervention. Conclusion: The findings underline the profound impact of NS on adolescents’ MOL, influenced by both sociodemographic and disease-specific factors. By identifying key areas for psychological intervention, this study contributes to the holistic care and treatment of adolescents with NS, advocating for integrated approaches that address their unique challenges and support systems. [ABSTRACT FROM AUTHOR]

Introduction: Kimura’s disease (KD) is a rare chronic inflammatory disorder characterized by subcutaneous lymphoid hyperplasia with peripheral eosinophilia. Kidney involvement is reported in 15%–18% of adult patients with KD, in many cases as nephrotic syndrome. We present a case of overlapping membranous nephropathy and IgA nephropathy associated with KD. Case report: A 27-year-old man was admitted with a history of bilateral leg edema for the last 2 months and concomitant progressive increase of cervical mass and fever. Laboratory findings were as follows: peripheral leukocyte count, 10,080/mm³; eosinophils, 3,200/mm³ (31.7%); serum creatinine, 0.83 mg/dL; and eGFR: 140 mL/min per 1.73 m². Urinalysis revealed the presence of hematuria and proteinuria and the following results: 24-h proteinuria, 12.9 g; serum albumin, 1.3 g/dL; and elevated IgE level, 750 kU/L. Serologies for hepatitis B, hepatitis C, HIV, and VDRL were all negative. Complement C3 and C4 levels were normal. No monoclonal protein was detected in blood and urine. Parasite infestation was discarded. A biopsy of the cervical lymph node revealed eosinophilic lymphoid hyperplasia, suggesting KD. A kidney biopsy revealed findings consistent with the overlapping of membranous nephropathy with IgA nephropathy. The patient was treated for KD with prednisone 1 mg/kg/d with progressive dose tapering and posterior association of methotrexate 15 mg/week. A renin–angiotensin system inhibitor was prescribed for nephrotic syndrome. The cervical mass regressed, and proteinuria achieved partial remission, with an increase in serum albumin level and normalization of eosinophils and IgE levels. Conclusion: Although uncommon, kidney involvement must be considered in patients with KD. Glomerular diseases are the most frequent form of kidney injury. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome (NS) is a common kidney disease in children. While Steroid-Sensitive Nephrotic Syndrome (SSNS) is frequently observed, Steroid-Resistant Nephrotic Syndrome (SRNS) has a poor prognosis and often leads to chronic kidney disease. The pathogenesis of SRNS is complex, with immunological modulation of T helper subtypes 1 and 2 cytokines increasing susceptibility to the disease. Currently, no established biomarkers can accurately predict SRNS. However, a group of cytokines might serve as potential indicators of responsiveness, aiding in the identification of patients with SRNS. The discovery of these cytokines as novel biomarkers for early diagnosis could greatly benefit patients. This includes preventing the adverse effects of glucocorticoid treatment and enabling a timely transition to more effective therapeutic alternatives. Methods: This study aims to investigate the association between the gene expression patterns of cytokines, including IL-2, IL-4, IL-5, IL-6, IL-9, IL-10, IL-13, IL-17A, NF-κB, and TNFα, in healthy participants (n = 100), SSNS patients (n = 100), and SRNS patients (n = 100). Using qRT-PCR, followed by Receiver-operating characteristic analysis, the study assesses their potential as biomarkers. Additionally, clinicodemographic data were analyzed, and bioinformatic analyses such as coexpression analysis, gene enrichment, pathway analysis, and Cytoscape were performed to enhance our understanding of the inflammatory cascade initiating podocyte injury in NS. Results: The results of our study suggest that specific candidate genes, including IL-2, IL-5, IL-6, IL-9, IL-17A, IL-10, IL-13, and TNFα, exhibit upregulation and hold significant importance, with an Area Under the Curve value of 0.9. Conclusion: These genes have the potential to serve as valuable prognostic and management tools for NS, forming a promising panel of inflammatory gene biomarkers. Furthermore, conducting an extensive analysis that integrates cytokine genes with their respective targeted microRNAs could offer deeper insights into the pathogenesis of the disease. [ABSTRACT FROM AUTHOR]

Background: Membranous nephropathy (MN) is a common type of nephrotic syndrome (NS) in adults, accounting for about 20–30% of cases. Although secondary to specific factors, the coexistence of MN and mantle cell lymphoma (MCL) has been scarcely reported in clinical literature. Case presentation: A 59-year-old Chinese male was admitted to the hospital with a generalized pruritic rash with bilateral lower extremity edema, which did not improve significantly after symptomatic treatment. He had undergone renal biopsy, and the diagnosis was thought to be secondary MN (SMN), therefore, we did a lymph node biopsy on the patient and found that MN was complicated with MCL. Soon after, the patient was admitted to the hematology department for a BR chemotherapy regimen (composed of bendamustine 90 mg/m2 BSA (body surface area), rituximab 375 mg/m2 BSA and dexamethasone 5 mg), and during the post-treatment follow-up, both his symptoms and renal function improved. Conclusions: The mechanism underlying the combination of SMN and MCL remains elusive and exceedingly rare, consequently often overlooked in clinical practice. This case serves to offer valuable clinical insights for diagnosis and treatment, while emphasizing the pivotal role of renal pathology in clinical assessment. [ABSTRACT FROM AUTHOR]

Background: Infection is the most common complication of pediatric patients with nephrotic syndrome. The factors associated with infection in nephrotic syndrome are lacking. The objective of the study was to identify the prevalence and associated factors among children with nephrotic syndrome aged 2 to 18 years. Methods: We conducted a hospital-based retrospective cross-sectional study. The data collector installed an Epi5 collector electronic data-collecting tool from Google Play. Then, we exported the data to Stata version 15.1 for analysis. The mean, standard deviation, frequency, and percentage were used for descriptive statistics. The logistic regression model was used to identify the factors associated with infection. Results: In this study, the prevalence of infection among nephrotic syndrome children is 39.8% (95%CI: 30.7, 49.7). The types of infection identified were pneumonia, urinary tract infection, diarrheal disease, cutaneous fungal infection, intestinal parasitic infection, and sepsis. The presence of hematuria increased the odds of infection by 5-times. On the other hand, low level of serum albumin increased the odds of infection by 7%. Being a rural resident increased the odds of infection by 3.3-times as compared to urban. Conclusions: Serum albumin level, presence of hematuria, and rural residence were significantly associated with infection. We recommended a longitudinal incidence study on large sample size at multicenter to strengthen this finding. [ABSTRACT FROM AUTHOR]

Context: Nephrotic syndrome(NS) has emerged as a worldwide public health problem. Renal fibrosis is the most common pathological change from NS to end-stage renal failure, seriously affecting the prognosis of renal disease. Although tremendous efforts have been made to treat NS, specific drug therapies to delay the progression of NS toward end-stage renal failure are limited. Epimedium is generally used to treat kidney disease in traditional Chinese medicine. Icariin is a principal active component of Epimedium. Methods: We used Sprague Dawley rats to establish NS models by injecting doxorubicin through the tail vein. Then icariin and prednisone were intragastric administration. Renal function was examined by an automatic biochemical analyzer. Pathology of the kidney was detected by Hematoxylin-Eosin and Masson staining respectively. Furthermore, RT-PCR, Enzyme-Linked Immunosorbent Assay, Immunohistochemistry, Western Blot and Terminal-deoxynucleotidyl Transferase Mediated Nick End Labeling staining were employed to detect the proteins related to pyroptosis and EMT. HK-2 cells exposed to doxorubicin were treated with icariin, and cell viability was assessed using the MTT. EMT was assessed using Enzyme-Linked Immunosorbent Assay and Western Blot. Results: The study showed that icariin significantly improved renal function and renal fibrosis in rats. In addition, icariin effectively decreased NOD-like receptor thermal protein domain associated protein 3,Caspase-1, Gasdermin D, Ly6C, and interleukin (IL)-1β. Notably, treatment with icariin also inhibited the levels of TGF-β, α-SMA and E-cadherin. Discussion and conclusions: It is confirmed that icariin can improve renal function and alleviate renal fibrosis by inhibiting pyroptosis and the mechanism may be related to epithelial-to-mesenchymal transition. Icariin treatment might be recommended as a new approach for NS. [ABSTRACT FROM AUTHOR]

Background: Hemorrhagic varicella (HV) is a particular form of chicken pox.,with high mortality in adults. This form of the disease is rare, to date, approximately 4 cases have been reported. Occasional cases of HV have been documented in adults with hematologic disorders or other diseases. While there is one reported case of simultaneous reactivation of cytomegalovirus in an adult with chickenpox, there is a lack of information regarding changes in liver function indicators for such patients. This is unfortunate, as CMV reactivation can further exacerbate liver failure and increase mortality. In this report, we present a case of hemorrhagic varicella reactivation with cytomegalovirus and provide some relevant discussions. Case presentation: We present the case of a 25-year-old male with HV, who had a history of nephrotic syndrome generally controlled with orally administered prednisone at a dosage of 50 mg per day for two months. The patient arrived at the emergency room with complaints of abdominal pain and the presence of hemorrhagic vesicles on his body for the past 3 days. Despite medical evaluation, a clear diagnosis was not immediately determined. Upon admission, the leukocyte count was recorded as 20.96 × 109/L on the first day, leading to the initiation of broad-spectrum antibiotic treatment. Despite the general interpretation that a positive IgG and a negative IgM indicate a previous infection, the patient's extraordinarily elevated IgG levels, coupled with a markedly increased CMV DNA quantification, prompted us to suspect a reactivation of the CMV virus. In light of these findings, we opted for the intravenous administration of ganciclovir as part of the treatment strategy. Unfortunately,,the patient succumbed to rapidly worsening symptoms and passed away. Within one week of the patient's demise, chickenpox gradually developed in the medical staff who had been in contact with him. In such instances, we speculate that the patient's diagnosis should be classified as a rare case of hemorrhagic varicella. Conclusion: Swift identification and timely administration of suitable treatment for adult HV are imperative to enhance prognosis. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome is characterized by the presence of proteinuria, more than 3.5 g per 24 h, hypoalbuminemia, edema and hyperlipidaemia. The spectrum of diseases causing nephrotic syndrome has changed globally over the last few decades. The current study aimed to investigate the clinicopathological characteristics of adults presenting with nephrotic syndrome. Methods: This study included patients aged 18 to >60 years who were diagnosed with nephrotic syndrome. All patients underwent renal biopsies and were examined using electron microscopy (EM), immunofluorescence (IF), and light microscopy.Results: Our study included 39 patients diagnosed with nephrotic syndrome who received treatment at hospitals affiliated with Bangalore Medical College and Research Institute. Among these patients, 61.5% were men, and 38.5% were women. The majority of cases (53.8%) occurred during the third decade of life. The most common initial symptom observed in these patients was pedal oedema. Systemic hypertension, hypercholesterolaemia, and hypothyroidism were found in 76.9%, 87.2%, and 69.2% of patients, respectively. Elevated serum creatinine levels were detected in 25.6% of patients, predominantly in those with focal segmental glomerulosclerosis (FSGS) and IgA nephropathy. The 24-hour urine protein levels ranged from to 3.6-12.3g/day, with an average of 6.52g/day. The most prevalent histological variant is membranous glomerulonephritis (MGN), followed by IgA nephropathy and mesangiocapillary glomerulonephritis (MCGN). Conclusion: Membranous glomerulonephritis is the predominant aetiology of nephrotic syndrome in adults. Nephrotic syndrome typically manifests during the third decade of life and has a higher incidence in males. Most patients exhibit comorbidities such as hypertension, hypothyroidism, and hyperlipidaemia. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome is usually accompanied by retention of water and sodium. Nephrotic syndrome is a collection of clinical findings due to kidney damage. This includes protein in the urine, low blood albumin levels, high blood lipids, and significant edema. Objectives: This study aimed to observe the pattern of lipid profile in the children with idiopathic nephrotic syndrome and the effect of treatment on the same. Methods: The present observational, cross sectional of 40 cases of nephrotic syndrome children aged between 2-8 years was carried out from June 2022 to July 2023 in Department of Pediatrics of Medical College & Hospital, Kolkata, West Bengal, India. Statistical data were analysed by using Microsoft Excel and SPSS V.20 software. Results: Number of nephrotic children presented during first episode (FE) was 10 (25%). Majority (65%) were under the category of infrequent relapser (I:R) and only 4 children (10%) were frequent relapse. It was observed that during relapse, 4 cases (10%) having their serum albumin level < 1.5 gm/dl showed a very high mean serum cholesterol value of 596 mg/dl. Among 40 nephrotic children during their relapse before treatment, majority of cases (60%) showed their serum LDL cholesterol value in between 200 - 300 mg /dl. Only few cases (8%) showed very high LDL cholesterol level above 401 mg /dl. The mean + SD value (mg / dl of LDL-cholesterol among control children was 94.8 +30.39 Conclusions: This study suggests that serum lipid profile evaluation be done at regular intervals in children with nephrotic syndrome with follow up even during remission. [ABSTRACT FROM AUTHOR]

While there remains no universally accepted definition for resistant edema, it is generally acknowledged as edema that fails to respond to maximally administered doses of diuretics. Nephrotic edema is characterized by high levels of proteinuria, notably urinary concentrations of serine proteases, which possess the ability to activate the epithelial sodium channel (ENaC), resulting in persistent fluid retention. Loop diuretics are typically preferred as first-line therapy for hypervolemia. However, the sustained activation of ENaC channels may lead to resistance to treatment. Consequently, the blockade of ENaC represents a potential therapeutic approach. We report the case of a 36-year-old man presenting with nephrotic edema managed with a combination of furosemide and human albumin. Despite an initially favorable response, the patient subsequently developed oliguria and progressive weight gain. On the third day, a regimen comprising amiloride (5 mg/day) and hydrochlorothiazide (50 mg/day) was initiated, resulting in complete resolution of edema after 11 days. No hyperkalemia was observed, with only a slight elevation in serum creatinine levels. Although clinical trials are limited, mounting evidence from human and animal studies supports the concept of nephrotic syndrome as an overfill phenomenon and underscores the potential benefits of ENaC blockers in the management of nephrotic edema. [ABSTRACT FROM AUTHOR]

Background: Children with nephrotic syndrome experience many side effects and frequent relapses when treated with steroids and other drugs. Mycophenolic acid (MPA) is one of the effective and least toxic drug for the treatment of nephrotic syndrome. This drug needs to be monitored for maximal efficacy and minimal toxicity. The therapeutic reference range for this drug is not established for the aforementioned patient population of Indian origin. Materials and Methods: In this observational study, children with nephrotic syndrome on mycophenolate mofetil were followed up for a minimum duration of three months. Following this, their clinical status (relapse/remission) was determined and the mycophenolate exposure was measured for over 12 hours. Results: A total of 34 participants were included, with 17 (50%) in relapse. Median MPA Area under the curve over 12 hours (AUC0--12h) (36.5 µg·h/ml) in the remission group differed significantly compared to that in the relapse group (17.2 µg·h/ml). Conclusion: Higher exposure to MPA AUC0--12h is associated with clinical remission of pediatric nephrotic syndrome. [ABSTRACT FROM AUTHOR]

Introduction. In recent years, the incidence of pediatric nephrotic syndrome (NS) has been increasing, and timely and effective treatment is critical to protect the health of children with NS. This study is an attempt to compare the therapeutic effects of prednisone (Pred) plus dipyridamole (DIP) versus Pred plus valsartan (VAL) on pediatric NS. Methods. Two hundred pediatric cases of NS were selected as the research participants, including 109 cases (group A) receiving Pred + DIP and 91 cases (group B) receiving Pred + VAL. The clinical efficacy, adverse reactions, and renal, coagulation functions and blood lipid levels, as well as the pre- and post-treatment levels of inflammatory factors (IFs) and immunoglobulins (Igs) were comparatively analyzed. Results. No statistically significant differences were found between groups in terms of clinical efficacy, incidence of adverse reactions and renal function (P > .05). After receiving the corresponding treatment, group A showed better coagulation and immune functions than group B, but higher levels of IFs and poorer blood lipid function (P < .05). Conclusion. Both Pred + DIP and Pred + VAL combination therapies can be used for the treatment of pediatric NS, with the former contributing to more obviously enhanced coagulation and immune functions, and the latter leading to more significantly inhibited inflammation and better regulated blood lipid function. [ABSTRACT FROM AUTHOR]

Aims: Prednisolone is the cornerstone of treatment for idiopathic nephrotic syndrome in children, but is associated with marked side‐effects. Therapeutic drug monitoring using saliva would be a patient‐friendly option to monitor prednisolone treatment. To assess the feasibility of saliva monitoring, we described the pharmacokinetics (PK) of unbound prednisolone in plasma and saliva of children with first onset steroid‐sensitive nephrotic syndrome (SSNS). Methods: Children (age 2–16 years) with SSNS participating in a randomized, placebo‐controlled trial with levamisole were treated with an 18‐week tapering schedule of prednisolone. Five serial samples were collected at 4 (saliva) and 8 weeks (saliva and plasma) after first onset. A nonlinear mixed‐effects model was used to estimate the PK parameters of unbound prednisolone and the saliva‐to‐plasma ratio. Monte Carlo simulations were performed to assess the predictive performance of saliva monitoring. Results: From 39 children, 109 plasma and 275 saliva samples were available. Estimates (relative squared error) of unbound plasma clearance and volume of distribution were 93 (5%) L h−1 70 kg−1 and 158 (7%) L 70 kg−1, respectively. Typical saliva‐to‐plasma ratio was 1.30 (8%). Monte Carlo simulations demonstrated that on basis of 4 saliva samples and a single plasma sample unbound plasma area‐under‐the‐concentration–time curve can be predicted within 20% imprecision in 79% of the patients compared to 87% based on 4 plasma samples. Conclusion: Saliva proved to be a reliable and patient‐friendly option to determine prednisolone plasma exposure in children with SSNS. This opens opportunities for further PK and pharmacodynamics studies of prednisolone in a variety of paediatric conditions. [ABSTRACT FROM AUTHOR]

Since the significance of viral infections in children and adolescents with nephrotic syndrome (NS) is yet to be defined, this study intended to estimate the occurrence, pattern, and outcomes of some DNA viral infections in children with NS. Methods: A prospective study was conducted to determine the genome identification of the viruses Epstein-Barr (EBV), human cytomegalovirus (HCMV), human herpesvirus 6 (HHV-6 type A and type B) and 7 (HHV-7), polyomavirus (BKV), and human adenovirus (HAdV) in plasma and urine samples of pediatric patients with NS. Results: A total of 35 patients aged 1 to 18 years with NS and under immunosuppressant drugs participated in the study. Plasma and urine samples were collected at regular intervals during a median follow-up of 266 days (range 133–595), and DNA was analyzed to detect the selected DNA viruses. Eleven patients (31.4%) had active virus infections, and patterns were classified as coinfection, recurrent, and consecutive. Of these, six patients (54.5%) presented viral coinfection, six (54.5%) viral recurrence, and seven patients (63.3%) had viral consecutive infection. Ten of the eleven patients with active infection had a proteinuria relapse (91%) and eight (72.7%) were hospitalized (p = 0.0022). Active HCMV infection was the most frequent infection and was observed in six patients (54.5%), three of the eleven patients (27.2%) had suspected HCMV disease in the gastrointestinal tract, and one had HHV-7 coinfection. The frequency of other infections was: 9% for HHV-6, 45.5% for BKV, 27.3% for HHV-7, 18.2% for EBV, and 18.2% for HAdV. Conclusion: viral infections, especially HCMV, can be an important cause of morbidity and nephrotic syndrome relapse in children. [ABSTRACT FROM AUTHOR]

Objective To establish and validate a model for predicting preeclampsia with nephrotic syndrome, providing reference for obstetricians to identify and diagnose preeclampsia with nephrotic syndrome early. Methods A retrospective analysis was conducted on 60 cases of pre-eclampsia with nephrotic syndrome hospitalized for delivery from January 2012 to January 2021 at the First Affiliated Hospital of Guangxi Medical University and Wuming Hospital affiliated to Guangxi Medical University. Additionally, 202 cases of non preeclampsia with nephrotic syndrome patients during the same period were selected as the control group. The cases were randomly divided into a training set and a validation set at a ratio of 7:3. Logistic univariate and multivariate analyses were performed on the training set according to whether preeclampsia with nephrotic syndrome was clinically diagnosed to establish a prediction model. The discriminative ability and calibration of the model were tested, and internal validation was conducted using bootstrap and validation set data. The model was visualized using a column line chart. Results Logistic univariate and multivariate analysis ultimately retained 4 variables: early onset type, primiparity, total protein, and fibrinogen. A diagnostic prediction model was established and presented using a column line chart. The internal validation area under the ROC curve was 0. 951 7, indicating good generalization of the model. The HL test statistic for internal validation was 5 376. 1, with P <0.001. Conclusion The constructed prediction model can serve as a reference for clinical physicians to diagnose preeclampsia with nephrotic syndrome. [ABSTRACT FROM AUTHOR]

Extracellular vesicles (EVs) are membranous cargo particles that mediate intercellular communication. They are heterogeneous in size and mechanism of release, and found in all biological fluids. Since EV content is in relation to the originating cell type and to its physiopathological conditions, EVs are under study to understand organ physiology and pathology. In addition, EV surface cargo, or corona, can be influenced by the microenvironment, leading to the concept that EV-associated molecules can represent useful biomarkers for diseases. Recent studies also focus on the use of natural, engineered, or synthetic EVs for therapeutic purposes. This review highlights the role of EVs in kidney development, pediatric kidney diseases, including inherited disorders, and kidney transplantation. Although few studies exist, they have promising results and may guide researchers in this field. Main limitations, including the influence of age on EV analyses, are also discussed. [ABSTRACT FROM AUTHOR]

Background: In the current study, longitudinal BP and lipid measurements were examined in a NEPTUNE cohort of children with newly diagnosed nephrotic syndrome (cNEPTUNE). We hypothesized that hypertensive BP and dyslipidemia would persist in children with nephrotic syndrome, regardless of steroid treatment response. Methods: A multi-center longitudinal observational analysis of data obtained from children < 19 years of age with new onset nephrotic syndrome enrolled in the Nephrotic Syndrome Study Network (cNEPTUNE) was conducted. BP and lipid data were examined over time stratified by disease activity and steroid exposure. Generalized estimating equation regressions were used to find determinants of hypertensive BP and dyslipidemia. Results: Among 122 children, the prevalence of hypertensive BP at any visit ranged from 17.4% to 57.4%, while dyslipidemia prevalence ranged from 40.0% to 96.2% over a median of 30 months of follow-up. Hypertensive BP was found in 46.2% (116/251) of study visits during active disease compared with 31.0% (84/271) of visits while in remission. Dyslipidemia was present in 88.2% (120/136) of study visits during active disease and in 66.0% (101/153) while in remission. Neither dyslipidemia nor hypertensive BP were significantly different with/without medication exposure (steroids and/or CNI). In regression analysis, male sex and urine protein:creatinine ratio (UPC) were significant determinants of hypertensive BP over time, while eGFR was found to be a determinant of dyslipidemia over time. Conclusions: Results demonstrate persistent hypertensive BPs and unfavorable lipid profiles in the cNEPTUNE cohort regardless of remission status or concurrent steroid or calcineurin inhibitor treatment. [ABSTRACT FROM AUTHOR]

Background: Eighty-five percent of infants with congenital nephrotic syndrome (CNS) and 66% with infantile NS (INS) are likely to have a monogenic etiology. There exists a significant genetic variability between different regions and ethnic groups. This study aimed to determine the genetic defects in children with CNS and INS by establishing a registry in western India. Methods: In this cross-sectional study, pediatric nephrologists from 13 private and government institutions shared relevant clinical data and details of the genetic evaluation of children presenting with NS within the first year of life. Results: The median age at presentation was 9 months (range 1–23, IQR 3–13 months), history of consanguinity between parents existed in 14 patients (34%), family history of similar illness in 6 (15%), and extra-renal manifestations in 17 (41%). Twenty-five (61%) were confirmed to have a monogenic etiology. NPHS1 gene was the most implicated (9/25) followed by PLCE1 (5/25). There were 12 variants of uncertain significance (VUS) involving 10 genes (10/25, 40%), and no definite genetic abnormality was found in 4 (25%). A re-analysis of these VUS attempted 2–3 years later facilitated reclassification of 7/12 (58%); increasing the diagnostic yield from 61 to 68.2%. Conclusions: Consistent with worldwide data, variants in NPHS1 gene were the most common cause of NS in infancy; however, PLCE1 was implicated more frequently in our cohort. NUP93 and COL4A3 were reported in early onset NS for the first time. Reclassification of VUS should be attempted, if feasible, since it may lead to a useful revision of diagnosis. [ABSTRACT FROM AUTHOR]

Background: Membranous nephropathy (MN) is an autoimmune disease in which circulating autoantibodies bind to a podocyte antigen, causing nephrotic syndrome. Despite several treatment options, their long-term benefits are still not established. The aim of this study is to investigate the long-term efficacy of cyclosporine and methylprednisolone in MN treatment. Methods: In this retrospective study, we included adults with biopsy-proven idiopathic MN. At diagnosis, all patients received conservative treatment, and those who did not show remission after 6 months received immunosuppression with cyclosporine and methylprednisolone. Those that despite no remission chose not to receive immunosuppression served as controls. Results: Sixty patients were included in the study with a follow-up of 94.8 ± 55.5 months. Forty-nine patients had nephrotic syndrome, and 47 received immunosuppression, while 13 received no treatment. Out of those who received immunosuppression, 63.8% showed complete, 14.9% partial, and 19.1% no remission of nephrotic syndrome. End-stage kidney disease (ESKD) or doubling of serum creatinine was reached by 12. Out of those who received no immunosuppression, 23.1% showed complete, 30.8% partial, and 23.1% had no remission. Doubling of serum creatinine or ESKD was reached by 1. Kidney survival was not altered by immunosuppression and was not different among those who received immunosuppression and had no or up to 3 relapses. Either complete or partial remission was accompanied by better kidney survival. Conclusion: Treatment of idiopathic MN with cyclosporine and methylprednisolone offers a reliable option for proteinuria remission. Nevertheless, this option does not alter long-term disease progression. [ABSTRACT FROM AUTHOR]

Key Clinical Message: The commonest renal involvement after bee stings is acute kidney injury due to rhabdomyolysis. Nephrotic syndrome combined with AKI is unusual complication of Hymenoptera stings. We diagnosed a minimal change disease and six‐year follow up relapses. [ABSTRACT FROM AUTHOR]

Anamnestic 13-valent pneumococcal conjugate vaccine immunization did not affect the relapse risk in pediatric idiopathic nephrotic syndrome. Pneumococcal serotype (PS)-specific antibody titers increased significantly in all groups. Children receiving immunomodulatory treatments (IMTs) displayed significantly lower levels of PS-specific antibodies for 3/8 serotypes tested. PS-specific B-cell counts significantly increased only in healthy controls and patients receiving corticosteroids. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome (NS) can occur as a paraneoplastic disorder in association with various types of carcinoma. However, paraneoplastic nephrotic syndrome (PNS) is often misdiagnosed as idiopathic nephrotic syndrome or as an adverse effect of oncology treatment, leading to delayed diagnosis and suboptimal treatment. The characteristics of NS associated with solid malignancies are not yet elucidated. We systematically summarized the clinical data for 128 cases of NS combined with solid malignancies with the aim of informing the clinical management of PNS. Methods: We searched the PubMed database for articles published from the date of inception through to October 2023 using the following keywords: "cancer" or "malignant neoplasms" or "neoplasia" or "tumors" and "nephrotic syndrome", "nephrotic" or "syndrome, nephrotic". All data were extracted from case reports and case series, and the extraction included a method for identifying individual-level patient data. Results: A literature search yielded 105 cases of PNS and 23 of NS induced by cancer therapy. The median age at diagnosis was 60 years, with a male to female ratio of 1.8:1. In patients with PNS, manifestations of NS occurred before, concomitantly with, or after diagnosis of the tumor (in 36%, 30%, and 34% of cases, respectively). Membranous nephropathy (49%) was the most prevalent renal pathology and found particularly in patients with lung, colorectal, or breast carcinoma. Regardless of whether treatment was for cancer alone or in combination with NS, the likelihood of remission was high. Conclusion: The pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients. [ABSTRACT FROM AUTHOR]

Purpose: Shear wave velocity (SWV) is an ultrasound elastography technique that provides much information for kidney disease assessment. However, the factors that alter SWV are not fully understood; it is unclear whether the variation in SWV seen in proteinuria associated with disease progression is due to tissue or proteinuria. This study investigated the effect of proteinuria on SWV. Methods: This prospective observational study compared SWV at remission with SWV at relapse in children treated for idiopathic nephrotic syndrome (INS) between April 2020 and December 2023. All relapses without oral steroids during the observation period were measured. SWV at remission was defined as the date closest to relapse during which repeated measurements were taken approximately every 3 months after steroid discontinuation. Results: Eight patients were treated for INS with a median observation period of 21.9 months (11.8–27.1). Of the 15 relapses, five that met the definition were considered for the study. The median interval between the measurement at relapse and remission was 40 days (11–55). SWV was significantly lower at relapse than remission (2.40 ± 0.20 m/s vs. 2.14 ± 0.15 m/s, P < 0.01). Conclusions: SWV decreased in the presence of severe proteinuria at relapse compared to the remission measurements. Although more cases need to be studied, the decrease in SWV may reflect the mechanism by which protein leaks into the urine, not just a direct change caused by the presence of proteinuria. [ABSTRACT FROM AUTHOR]

The aim of this study is to report a case in which a patient with nephrotic syndrome underwent surgery to remove fibrous gum tissue (ulectomy). An 8‐year‐old patient, diagnosed with early onset nephrotic syndrome due to a mutation in the NUP107 gene, had received a kidney transplant and was therefore taking various medications, including immunosuppressants. On oral examination, the patient was found to have a fibrous gingiva that was preventing the eruption of the upper permanent central incisors. A ulectomy was performed and the gingival tissue was sent for histopathological analysis, which showed normal aspects. The upper right central incisor was seen in the oral cavity 15 days after surgery. A second procedure was carried out to facilitate the eruption of the upper left incisor, which was visualized in the oral cavity 30 days later. In addition, oral manifestations such as maxillary atresia, ogival palate and mouth breathing were observed. Therefore, the role of the dental surgeon in the lives of transplanted children is considered important, as they often take various medications that can affect their oral health. Thus, early diagnosis and effective treatment will be essential to prevent future malocclusions and thus improve the quality of life of these patients. [ABSTRACT FROM AUTHOR]

Background The gut microbiota has a potential role in the development of nephrotic syndrome. Fecal short-chain fatty acid (SCFA) levels are representative of gut microbiota activity. Objective To assess for potential associations of fecal short-chain fatty acid levels in pediatric relapsing nephrotic syndrome. Methods This cross-sectional study was done on patients at the Pediatric Nephrology Subdivision of Prof. Dr. R.D. Kandou General Hospital, a referral hospital in Manado, Indonesia. Subjects were 25 patients aged less than 18 years with nephrotic syndrome (NS). We compared the levels of fecal acetic acid, propionic acid, butyric acid percentage, absolute butyric acid, and total short-chain fatty acid between children with relapsing and nonrelapsing NS. A receiver operating characteristic (ROC) curve analysis was conducted to determine the significant SCFA cut-off level to diagnose NS. Results Comparison of fecal SCFAs between relapsing and non-relapsing NS groups showed significantly lower butyric acid percentages, absolute butyric acid level, and total SCFAs levels in the relapsing NS group, but not in acetic acid or propionic acid levels. Further multivariate analysis did not show a significant difference in total SCFA levels between relapsing and non-relapsing NS. Absolute butyric acid level had the strongest association with relapsing NS, with the highest predictive score. The absolute butyric acid cut-off value of 0.85 mg/mL had a high sensitivity (90%) and high specificity (93.3%) for predicting relapsing nephrotic syndrome. Conclusion Fecal acetic acid, propionic acid, and total shortchain fatty acid in stool are not associated with relapsing NS in children. However, fecal butyric acid measurements are inversely associated with relapsing NS. [ABSTRACT FROM AUTHOR]

Steroid resistant nephrotic syndrome (SRNS) accounts for 30% of all cases of nephrotic syndrome (NS) in children and frequently leads to end stage kidney disease (ESKD). About 30% of children with SRNS demonstrate causative mutations in podocyte- associated genes. Early identification of genetic forms of SRNS is critical to avoid potentially harmful immunosuppressive therapy. A 2-year-old male patient with NS and no family history of renal disease did not respond to 4-week steroid treatment. Kidney biopsy demonstrated mesangial proliferative glomerulopathy with basement membrane dysmorphism. Tacrolimus and Lisinopril were added to therapy pending results of genetic testing. Kidney Gene panel showed a NPHS2 c.413G>A (p.Arg138Gln) homozygous pathogenic variant. This missense variant is considered a common pathogenic founder mutation in European populations. A diagnosis of autosomal-recessive form of nonsyndromic SRNS due to NPHS2 causative variant was made. Immunosuppresive therapy was stopped, Lizinopril dose was increased and weekly infusions of Albumin/furosemide were initiated to manage edema. This case demonstrates that early genetic testing in children with SRNS avoids prolonged potentially harmful immunosuppressive therapy, allows for timely genetic family counseling, and allows earlier consideration for future living related donor kidney transplantation. [ABSTRACT FROM AUTHOR]

Background: Focal segmental glomerulosclerosis (FSGS) is a prevalent glomerular disease that often leads to nephrotic syndrome. It is characterized by consolidating a portion of the glomerular capillary tuft connected to Bowman's capsule. This retrospective cohort study aimed to determine the demographic characteristics, risk factors, and prognostic indicators associated with FSGS in Shiraz, Iran. Methods: The study included 53 primary FSGS patients aged over 18 years who were referred to clinics affiliated with Shiraz University of Medical Sciences. Data were collected through a comprehensive data-gathering sheet encompassing demographic information, medical history, laboratory test results, and histopathological findings. Statistical analysis was performed using SPSS 18, considering a significance level of p<0.05. Results: A five-year follow-up was conducted on the 53 patients, with the mean age of 41.0±13.3 years. The most common FSGS variants observed were "not otherwise specified" (NOS, 13.2%) and tip variant (7.5%). Older patients exhibited higher disease activity, whereas remission rates were higher among younger individuals (P=0.012). Patients achieving remission had lower creatinine and Pro/Cr ratios and higher glomerular filtration rates (p<0.05). Treatment involving a combination of corticosteroids and mycophenolate mofetil showed a significant correlation with remission (P=0.036). Conclusion: Older patients with higher creatinine levels, higher Pro/Cr ratios, and lower glomerular filtration rates at disease onset may require more aggressive treatment. Combination therapy with mycophenolate mofetil and corticosteroids yields better outcomes, leading to increased remission rates. These findings provide valuable insights for managing FSGS patients. [ABSTRACT FROM AUTHOR]

Objectives: Prolonged use of corticosteroids induced complicated course in children with steroid-dependent nephrotic syndrome (SDNS), and the use of tacrolimus, a first-line alternative calcineurin inhibitor (CNI) agent was related to some unwanted adverse effects. Rituximab, a second alternative treatment has been proven to reliably reduce the number of relapses within 12 months with minimal adverse effects. Materials and Methods: Our review follows Preferred Reporting Items for Systematic Review and Meta-analysis guidelines. All the databases were derived from MEDLINE, Proquest, EBSCOhost, Wiley, and Google Scholar within the past 11 years. The risk of bias was evaluated using the Revised Cochrane Risk of Bias Tool for Randomized Trials (RoB 2) and Risk of Bias in Non-Randomized Studies of Interventions. Meta-analysis used Review Manager (version 5.4) with a random effect model to obtain a pooled mean difference (MD) and odds ratio with 95% confidence intervals (CIs). Results: Four studies were included based on our eligibility criteria, and only three were included in the quantitative analysis. Three studies had low and one study had a moderate risk of bias. Pooled data results indicated that Rituximab was superior to tacrolimus in reducing the number of patients with 1-2 relapses (MD = 0.44, [95% CI: 0.21-0.91]) and had higher eGFR values (MD = 6.67; [CI - 2.92-10.61]). However, Rituximab showed insignificant superiority compared to tacrolimus in reducing the number of patients with 3 relapses, sustained remission, cumulative steroid use, serum cholesterol, and serum albumin concentrations. Conclusion: Rituximab exhibits more advantages in treating SDNS compared to tacrolimus, although the treatment options are highly individualized. Both regimens must also be weighed against their potential side effects to achieve a better overall health status. [ABSTRACT FROM AUTHOR]

BackgroundNephrotic syndrome (NS) is a prevalent kidney disease in children. Acute kidney injury (AKI) is a severe complication of NS and has the potential to be life-threatening.ObjectiveThe aim of this study was to analyze the prevalence and risk factors of AKI in children with NS, and to provide an evidence-based medical basis for the early identification of high-risk children in the clinic.MethodsA comprehensive search was conducted in publicly available databases, namely PubMed, Embase, Web of Science, Scopus, and the Cochrane Library, covering the period from the inception of each database until May 2024. The analysis involved examining basic characteristics (age, sex), the concomitant diseases (hypertension, infections), NS disease characteristics (steroid susceptibility classification, pathologic classification), laboratory test (e.g., serum albumin), and the use of nephrotoxic drugs. Traditional and network meta-analyses were performed for analysis.ResultsA total of 11 studies were included in the analysis, revealing an incidence of AKI of 29% (95% CI: 23%–37%). The analysis of factors indicated that the age of NS onset [standardized mean difference (SMD): 0.31; 95% confidence interval (CI): 0.08, 0.54; p = 0.009], sex [odds ratio (OR): 1.49; 95% CI: 1.03, 2.16; p = 0.035], serum albumin level (SMD: −0.43; 95% CI: −0.85, −0.02; p = 0.041), response to steroid treatment (OR: 0.52; 95% CI: 0.33, 0.80; p = 0.003), infection (OR: 3.60; 95% CI: 1.91, 6.78; p

Nephrotic syndrome (NS) represents a prevalent syndrome among various chronic kidney disease pathologies and is known for its higher severity and worse prognosis compared with chronic glomerulonephritis. Understanding its pathogenesis and identifying more effective treatment modalities have long been a concern of kidney specialists. With the introduction of the gut–kidney axis concept and the progress in omics technologies, alterations in the gut microbiota have been observed in primary and secondary NS. This link has been extensively researched in conditions such as diabetic nephropathy and immunoglobulin A (IgA) nephropathy. Thus, dysbiosis of the gut microbiota is seen as a crucial contributing factor in NS; however, there is a lack of comprehensive reviews that elucidate the changes in the gut microbiota across different NS conditions and that describe its mechanistic role in the disease. Moreover, serving as an innate regulator of the gut microbiota, traditional Chinese medicine (TCM) has the potential to exert a profound impact on the expression of inflammation-promoting agents, decreasing the levels of endotoxins and uremic toxins. In addition, it strengthens the stability of the intestinal barrier while controlling the metabolic function of the body through its efficient modulation of the gut microbiota. This intricate process yields far-reaching consequences for NS.

Background There is a close clinical association between hypothyroidism and nephrotic syndrome (NS) was close, but whether there is genetic causality between the two is not known.Objective Using pooled data from a genome-wide association study (GWAS), the association between hypothyroidism and NS was explored via Mendelian randomization (MR) analysis.Methods Single-nucleotide polymorphisms (SNPs) associated with hypothyroidism (or NS) were screened as genetic instrumental variables (IVs) from pooled GWAS data, and inverse-variance weighting (IVW) was used for the main analysis to estimate causal effects, with MR-Egger, weighted median, and weighted mode used as complementary methods. Sensitivity analyses, including Cochran’s Q test, MR-Egger intercept, MR-PRESSO and leave-one-out, were also conducted to assess the robustness of the results.Results Genetically predicted hypothyroidism was positively associated with the risk of developing NS (IVW: OR = 1.18, 95% CI: 1.07–1.30, p = 0.00; MR-Egger: OR = 1.36, 95% CI: 1.10–1.68, p = 0.01), and the MR-Egger intercept (intercept = −0.02, p = 0.14), MR-PRESSO test (p = 0.14), Cochran’s Q test (p = 0.15) and leave-one-out test results supported the robustness of the results. Genetically predicted NS status might not be associated with an increased risk of developing hypothyroidism (IVW: OR = 1.01, 95% CI: 1.00–1.03, p = 0.08; MR-Egger: OR = 1.01, 95% CI: 0.98–1.04, p = 0.43), and the MR-Egger intercept (intercept < 0.01, p = 0.69), MR-PRESSO test (p = 0.64), Cochran’s Q test (p = 0.61) and leave-one-out test results supported the robustness of the results.Conclusion Hypothyroidism status could increase the risk of developing NS.

Introduction Nephrotic syndrome (NS) is a common chronic kidney disease in children characterized by the leakage of protein through a pathologically altered glomerular filtration membrane. There is not much literature on a clear association between Idiopathic Nephrotic Syndrome (INS) and atopic disorder and the relationship between IgE and IL-13 in children with INS in relapse and remission. Thus, the present case-control study was conducted using the validated assessment tool i.e., the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire to determine the prevalence of allergies along with the estimation of IgE and IL-13 levels to determine their role in the pathogenesis and outcome of patients with NS. Methods The present study was a hospital-based, case-control study, which was conducted in the Department of Paediatrics, Pt. B.D. Sharma PGIMS, Rohtak to determine the prevalence of allergies in children with Idiopathic NS. Fifty children with NS (Group I) were taken as cases and 50 age and gender-matched children (Group II) were taken as controls. Allergies were assessed by using the ISAAC Questionnaire, and IgE and IL -13 were determined by the ELISA technique. Results Baseline demographics were comparable in both groups. The incidence of asthma was higher in Group I as compared to Group II and statistically significant. The mean serum IgE and IL -13 levels in Group I were higher as compared to Group II, and the difference was statistically significant, P value being

BackgroundTRIM8-related neuro-renal syndrome (NRS), caused by pathogenic variants of the TRIM8 gene, is characterized by epilepsy, developmental delay (DD) and renal disorders. The severity of the neurological effects as well as the presence of renal disorders is variable among patients. Here, we report three additional patients with clinical features compatible with NRS and summarize the association between the variants’ loci and phenotype of TIRM8-related NRS.MethodsA retrospective analysis was conducted for three Chinese children with NRS due to TRIM8 variants identified through whole-exome sequencing (WES). Previous reports of patients with TRIM8-related NRS were reviewed systematically. Demographic and clinical data were collected from these patientsResultsTwo de novoTRIM8 truncating variants in three NRS patients were identified in our study, including c.1327_c.1328delCCinsTG (p. Arg443*) and c.1375C>T (p.Gln459*). Our three patients all exhibited drug-resistant epilepsy and early-onset DD, and two of whom developed electrical status epilepticus during sleep (ESES). Brain magnetic resonance imaging (MRI) showed periventricular leukomalacia in one patient and normal in the other two. All three patients demonstrated nephrotic range proteinuria (NRP) or nephrotic syndrome (NS) with normal renal function during follow-up. There was a total of 27 patients with TRIM8-related NRS have been identified to date. The most common clinical features are renal diseases (89%), DD (89%), followed by epilepsy (78%). 67% of patients eventually progressed to end-stage renal disease (ESRD). Focal seizure was the most frequent seizure type (57%). 52% of patients presented drug-resistant epilepsy. 64% of patients exhibited non-specific brain MRI abnormalities. Brain atrophy was the most common change (50%). Two patients with TRIM8 variants closer to the N-terminal had neurological diseases without renal damage. Five patients with TRIM8 variants closer to the C-terminal had no severe neurological diseases. Seven patients had Gln459* variant which is the most common variant (7/27, 25.9%). The severity of the renal and neurological damage of the seven patients was variable.ConclusionThis study expands the number of individuals with confirmed NRS due to pathogenic variants in TRIM8. Neurological and renal phenotype with the same variant locus differed in their severity. Further research is needed to explore the relationship between genotype and phenotype of TRIM8 variants.

Nephrotic syndrome is a common condition characterized by filtration of large amounts of protein, hypoalbuminemia, reduced plasma oncotic pressure, sodium retention, and edema. The mechanism responsible for sodium retention in this condition is still controversial. Two different pathophysiological pathways have been proposed to explain edema formation: activation of neurohumoral effector mechanisms, including the renin–angiotensin–aldosterone system, or abnormal intrinsic/primary renal sodium retention. A 5-year-old boy with X-linked adrenoleukodystrophy presented with bilateral leg swelling, massive proteinuria, and hypoalbuminemia. Minimal change disease was diagnosed. The patient was initially treated with corticosteroids and experienced several relapses. The progression of fractional excretion of sodium correlated with proteinuria and undetectable aldosterone levels. This unusual finding suggests that the mechanism of tubular sodium avidity in this child with mineralocorticoid insufficiency was independent of the renin–angiotensin–aldosterone system. [ABSTRACT FROM AUTHOR]

This letter to the editor published in Leukemia & Lymphoma discusses a rare case of HHV8-related Castleman disease presenting with nephrotic syndrome and pauci-immune glomerulonephritis in an immunocompetent patient. The patient's condition improved with treatment, including steroids and Rituximab, leading to complete resolution of symptoms. The article highlights the challenges in diagnosing and treating this condition, emphasizing the importance of considering Castleman disease in cases of ANCA-negative pauci-immune glomerulonephritis, especially in the presence of specific symptoms. [Extracted from the article]

IgA nephropathy (IgAN) is a common glomerular disease affecting individuals across the age spectrum. However, there are differences in the presentation and prognosis of IgAN between elderly and young adults. Elderly patients with IgAN tend to present with more severe kidney disturbances, worse baseline renal function, and a poorer prognosis compared to young adults. The Oxford classification contributes to the overall prognosis of IgAN in elderly patients by improving prognostic assessment, providing a better determinant of kidney survival, and combining histopathologic findings with clinical features. It offers a more comprehensive approach to understanding the disease course and predicting outcomes in elderly individuals with IgAN. Understanding these differences is a fundamental basis for pinpointing potential therapeutic targets to mitigate age-related renal pathology in IgAN patients. [ABSTRACT FROM AUTHOR]

Acute post-streptococcal glomerulonephritis (APSGN) is the most common glomerulonephritis of childhood, and clinical presentation can vary widely. This case report presents an atypical manifestation of APSGN in an 8-year-old female patient with pleuritic chest pain and elevated troponin-I, despite lacking classical kidney symptoms. Imaging studies showed cardiomegaly and interstitial lung opacities. Further investigations revealed hematuria and proteinuria, and the diagnosis was confirmed through elevated antistreptolysin-O (ASO) titers and low complement 3 (C3) levels. The patient was successfully managed with fluid restriction, diuretics, and antihypertensives, resulting in the resolution of symptoms and normalization of laboratory values. This case highlights the significance of recognizing atypical manifestations of APSGN for ensuring prompt diagnosis and proper management in the pediatric population. [ABSTRACT FROM AUTHOR]