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Background: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry. Methods: We evaluated the clinical and mutational profile of this cohort and performed a systematic review of BS mutations from worldwide cohorts. Results: Twenty-two patients were included; Gitelman syndrome was diagnosed in 2 siblings with antenatal BS and congenital chloride diarrhea in 1 girl. BS was confirmed in 19 patients: BS type 1 in 1 boy (antenatal BS); BS type 4a in 1 girl and BS type 4b in 1 girl, both of them with antenatal BS and neurosensorial deafness; BS type 3 (CLCNKB mutations): 16 cases. The deletion of the entire CLCNKB (1–20 del) was the most frequent variant. Patients carrying the 1–20 del presented earlier manifestations than those with other CLCNKB-mutations and the presence of homozygous 1–20 del was correlated with progressive chronic kidney disease. The prevalence of the 1–20 del in this BS Brazilian cohort was similar to that of Chinese cohorts and individuals of African and Middle Eastern descent from other cohorts. Conclusion: This study expands the genetic spectrum of BS patients with different ethnics, reveals some genotype/phenotype correlations, compares the findings with other cohorts, and provides a systematic review of the literature on the distribution of BS-related variants worldwide.

Wilms’ tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of WT1 have been classically associated with Denys–Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in the zinc finger region are the cause of DDS, whereas pathogenic variants affecting the canonic donor lysine-threonine-serine splice site in intron 9 cause FS. Phenotypic overlap between WT1 disorders has been frequently observed. New WT1 variant-associated phenotypes, such as 46,XX testicular/ovarian-testicular disorders of sex development (DSD) and primary ovarian insufficiency, have been reported. In this report, we describe the phenotypes and genotypes of 7 Brazilian patients with pathogenic WT1 variants. The molecular study involved Sanger sequencing and massively parallel targeted sequencing using a DSD-associated gene panel. Six patients (5 with a 46,XY karyotype and 1 with a 46,XX karyotype) were initially evaluated for atypical genitalia, and a 46,XY patient with normal female genitalia sought medical attention for primary amenorrhea. Germ cell tumors were identified in 2 patients, both with variants affecting alternative splicing of WT1 between exons 9 and 10. Two pathogenic missense WT1 variants were identified in two 46,XY individuals with Wilms’ tumors; both patients were WT1 variant, c.1453_1456 (p.Arg485Glyfs*14), was identified in a 46,XX patient with testicular DSD. Nephrotic proteinuria was diagnosed in all patients, including 3 who underwent renal transplantation after progressing to end-stage kidney disease. The expanding phenotypic spectrum associated with WT1 variants in XY and XX individuals confirms their pivotal role in gonadal and renal development as well as in tumorigenesis, emphasizing the clinical implications of these variants in genetic diagnosis.

Background: cardiovascular complications are the leading mortality cause among children with chronic kidney diseases (CKD), being responsible for up to 30% of deaths. Left ventricle (LV) diastolic dysfunction is common and has been linked to poor cardiovascular outcomes. Echocardiographic assessment of diastolic function in CKD children is usually limited to spectral and tissue Doppler imaging, known to be less reliable techniques in pediatrics. Two-dimensional Speckle tracking echocardiography (2DST) evaluation of LA strain has recently been confirmed as a robust measure of diastolic function, in different clinical scenarios. Objectives: to investigate LA strain role in diastolic function assessment of children at different stages of CKD, comparing it with standard echocardiographic parameters. Methods: From February 2019 to July 2022, 55 consecutive pediatric CKD patients without cardiovascular symptoms and 55 healthy volunteers were evaluated by standard and 2DST echocardiograms. Clinical data were collected from medical records by the attendant physician. Results: patients and controls had similar age [9.78 (0.89 – 17.54) years vs. 10.72 (1.03 – 18,44) years; p = 0.41] and gender (36M:19F vs. 34M:21F; p = 0.84). The median duration of the disease was 8.1 (0.83 - 17.5) years. There were 7 (12.8%) CKD stage I, 4 (7.3%) CKD stage II, 12 (21.8%) CKD stage III, 2 (3.6%) CKD stage IV and 30 (54.5%) CKD stage V patients. Standard echo reveled preserved (≥ 55%) LV EF in all of them. Although average E/e’ was higher in CKD [6.99 (4.75 – 14.20) vs. 6.38 (3.88 – 11.11); p = 0.009], it was above normal limits in only one individual. Comparing CKD and controls, LA reservoir strain was lower (48.22 ± 10.62% vs. 58.52 ± 10.70%; p < 0.0001) and LA stiffness index was higher [0.14 (0.08 – 0.48) % vs. 0.11 (0.06 – 0.23) % ; p < 0.0001]. LV hypertrophy was associated with lower LA reservoir strain (42.05 ± 8.74% vs. 52.99 ± 9.52%; p < 0.0001), higher LA stiffness index [0.23 (0.11 – 0.48) % vs. 0.13 (0.08 – 0.23) % ; p < 0.0001) and filling index (2.39 ± 0.63 cm/s x % vs. 1.74 ± 0.47 cm/s x % ; p = 0.0001). Uncontrolled hypertension was associated with lower LA reservoir strain (41.9 ± 10.6% vs. 50.6 ± 9.7; p = 0.005). CKD stage showed negative correlation with LA reservoir strain ( r = - 0.37; p = 0.006) and conduit strain ( r = - 0.28; p = 0.0035), besides positive correlation with LA stiffness index (r = 0.48; p = 0.0002). E/e’ showed inferior accuracy in differentiating CKD patients from controls (AUC = 0.64), when compared with LA reservoir strain (AUC = 0.75) and LA stiffness index (AUC = 0.73). LA reservoir strain showed the best accuracy in differentiating dialysis form non dialysis patients (AUC = 0.77). Conclusions: LA strain parameters, especially reservoir strain and stiffness index, showed better accuracy than conventional E/e’ ratio concerning diastolic evaluation in pediatric CKD population. Since diastolic dysfunction bears strong prognostic value in CKD, incorporation of LA strain in routine echocardiographic evaluation of this particular pediatric population seems to be an appropriate strategy

Objective To evaluate physical and mental health indicators in adolescents with preexisting chronic immunocompromised conditions during coronavirus disease 2019 (COVID-19) quarantine. Methods A cross-sectional study included 355 adolescents with chronic conditions and 111 healthy adolescents. An online self-rated survey was used to investigate socio-demographic features, healthcare routine, and the quarantine impact on physical and mental health. The validated self-reported version of the Strengths and Difficulties Questionnaire (SDQ) was also applied. Results The median of age [14 (10–18) vs. 15 (10–18) years, p = 0.733] and frequencies of female (61% vs. 60%, p = 0.970) were similar between adolescents with preexisting chronic conditions and healthy adolescents during quarantine of COVID-19 pandemic. The frequencies of abnormal total difficulties score of SDQ were similar in patients and controls (30% vs. 31%, p = 0.775). Logistic regression analysis showed that being female (OR = 1.965; 95% CI = 1.091–3.541, p = 0.024), fear of underlying disease activity/complication (OR = 1.009; 95%CI = 1.001–1.018, p = 0.030) were associated with severe psychosocial dysfunction in adolescents with chronic conditions, whereas school homework (OR = 0.449; 95% CI = 0.206–0.981, p = 0.045) and physical activity (OR = 0.990; 95% CI = 0.981–0.999, p = 0.030) were protective factors. Further analysis of patients with chronic immunocompromised conditions and previous diagnosis of mental disorders (9%) compared with patients without diagnosis showed higher median of total difficulties score (p = 0.001), emotional (p = 0.005), conduct (p = 0.007), peer problems (p = 0.001) and hyperactivity (p = 0.034) in the former group. Conclusion Adolescents with preexisting chronic immunocompromised conditions during COVID-19 quarantine were not at higher risk of adverse health indicators. Being female, fear of underlying disease activity/complication, and household members working outside of the home were relevant issues for adolescents with preexisting chronic conditions. This study reinforces the need to establish mental health strategies for teens with chronic conditions, particularly during the pandemic.

OBJECTIVES: To prospectively evaluate demographic, anthropometric and health-related quality of life (HRQoL) in pediatric patients with laboratory-confirmed coronavirus disease 2019 (COVID-19) METHODS: This was a longitudinal observational study of surviving pediatric post-COVID-19 patients (n=53) and pediatric subjects without laboratory-confirmed COVID-19 included as controls (n=52) was performed. RESULTS: The median duration between COVID-19 diagnosis (n=53) and follow-up was 4.4 months (0.8-10.7). Twenty-three of 53 (43%) patients reported at least one persistent symptom at the longitudinal follow-up visit and 12/53 (23%) had long COVID-19, with at least one symptom lasting for >12 weeks. The most frequently reported symptoms at the longitudinal follow-up visit were headache (19%), severe recurrent headache (9%), tiredness (9%), dyspnea (8%), and concentration difficulty (4%). At the longitudinal follow-up visit, the frequencies of anemia (11% versus 0%, p=0.030), lymphopenia (42% versus 18%, p=0.020), C-reactive protein level of >30 mg/L (35% versus 0%, p=0.0001), and D-dimer level of >1000 ng/mL (43% versus 6%, p=0.0004) significantly reduced compared with baseline values. Chest X-ray abnormalities (11% versus 2%, p=0.178) and cardiac alterations on echocardiogram (33% versus 22%, p=0.462) were similar at both visits. Comparison of characteristic data between patients with COVID-19 at the longitudinal follow-up visit and controls showed similar age (p=0.962), proportion of male sex (p=0.907), ethnicity (p=0.566), family minimum monthly wage (p=0.664), body mass index (p=0.601), and pediatric pre-existing chronic conditions (p=1.000). The Pediatric Quality of Live Inventory 4.0 scores, median physical score (69 [0-100] versus 81 [34-100], p=0.012), and school score (60 [15-100] versus 70 [15-95], p=0.028) were significantly lower in pediatric patients with COVID-19 at the longitudinal follow-up visit than in controls. CONCLUSIONS: Pediatric patients with COVID-19 showed a longitudinal impact on HRQoL parameters, particularly in physical/school domains, reinforcing the need for a prospective multidisciplinary approach for these patients. These data highlight the importance of closer monitoring of children and adolescents by the clinical team after COVID-19.

OBJECTIVE: To assess the possible factors that influence sleep quality in adolescents with and without chronic immunosuppressive conditions quarantined during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This cross-sectional study included 305 adolescents with chronic immunocompromised conditions and 82 healthy adolescents. Online surveys were completed, which included questions on socio-demographic data and self-rated healthcare routine during COVID-19 quarantine and the following validated questionnaires: the Pittsburgh Sleep Quality Index (PSQI), Pediatric Quality of Life Inventory 4.0 (PedsQL4.0), and Pediatric Outcome Data Collection Instrument (PODCI). RESULTS: The median current age [14 (10-18) vs. 15 (10-18) years, p=0.847] and frequency of female sex (62% vs. 58%, p=0.571) were similar in adolescents with chronic conditions compared with healthy adolescents. The frequency of poor sleep quality was similar in both groups (38% vs. 48%, p=0.118). Logistic regression analysis, including both healthy adolescents and adolescents with chronic conditions (n=387), demonstrated that self-reported increase in screen time (odds ratio [OR] 3.0; 95% confidence interval [CI] 1.3-6.8; p=0.008) and intrafamilial violence report (OR 2.1; 95% CI 1.2-3.5; p=0.008) were independently associated with poor sleep quality in these adolescents. However, the PODCI global function score was associated with a lower OR for poor sleep quality (OR 0.97; 95% CI 0.94-0.99; p=0.001). Further logistic regression, including only adolescents with chronic conditions (n=305), demonstrated that self-reported increase in screen time (OR 3.1; 95% CI 1.4-6.8; p=0.006) and intrafamilial violence report (OR 2.0; 95% CI 1.2-3.4; p=0.011) remained independently associated with poor quality of sleep, whereas a lower PODCI global function score was associated with a lower OR for sleep quality (OR 0.96; 95% CI 0.94-0.98; p

Background Kidney transplantation is the gold standard treatment for children with end-stage chronic kidney disease. Graft thrombosis is an important cause of graft failure, with high morbidity, mortality, and impact on quality of life and to the health system. The role of thromboprophylaxis in this setting is still uncertain. We describe the demographic characteristics and thrombotic risk factors in pediatric renal transplant recipients, determining the rate of renal graft thrombosis, and discuss the role of thromboprophylaxis. Methods This retrospective study reviewed 96 pediatric renal transplantations between 2008 and 2017 in a single hospital. Patients were assigned to one of two groups: children who did not receive thromboprophylaxis after transplantation and those who did. We reported their characteristics, comparing the incidence of graft thrombosis and hemorrhagic complications between the groups. Results Forty-nine patients (51%) received thromboprophylaxis. Thrombosis occurred in 5 patients who did not receive thromboprophylaxis (5.2%) compared with none in the group that did (p = .025). In all patients, renal graft thrombosis resulted in early graft loss. Thirteen patients had hemorrhagic complications. Seven were unrelated to pharmacological thromboprophylaxis (2 major, 1 moderate, and 4 minor bleeding, which either did not receive thromboprophylaxis or had bleeding prior to thromboprophylaxis), while six occurred during heparinization (2 major, 1 moderate, and 3 minor bleeding). There was no significant difference in the rate of hemorrhagic complications between the groups (p = .105). Conclusions The rate of renal graft thrombosis was 5.2%. Thrombosis remains an important cause of early graft loss. Thromboprophylaxis was associated with a reduction in graft thrombosis without increased risk of bleeding.

Background Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant disease caused by mutations in APOE, the gene which encodes apolipoprotein E. LPG mainly affects Asian individuals, however occasional cases have also been described in Americans and Europeans. Herein we report two unrelated Brazilian patients with LPG in whom genetic analyses revealed the APOE-Osaka/Kurashiki variant. Case presentation - case 1 A 29-year-old Caucasian male sought medical attention with complaints of face swelling and foamy urine for the last 3 months. He denied a family history of kidney disease, consanguinity, or Asian ancestry. His tests showed proteinuria of 12.5 g/24 h, hematuria, serum creatinine 0.94 mg/dL, albumin 2.3 g/dl, total cholesterol 284 mg/dL, LDL 200 mg/dL, triglycerides 175 mg/dL, and negative screening for secondary causes of glomerulopathy. A kidney biopsy revealed intraluminal, laminated deposits of hyaline material in glomerular capillaries consistent with lipoprotein thrombi. These findings were confirmed by electron microscopy, establishing the diagnosis of LPG. His apolipoprotein E serum level was 72 mg/dL and genetic analysis revealed the APOE pathogenic variant c.527G > C, p.Arg176Pro in heterozygosis, known as the Osaka/Kurashiki mutation and positioned nearby the LDL receptor binding site. Case 2 A 34-year-old Caucasian man sought medical assessment for renal dysfunction and hypertension. He reported intermittent episodes of lower-limb edema for 3 years and a family history of kidney disease, but denied Asian ancestry. Laboratorial tests showed BUN 99 mg/dL, creatinine 10.7 mg/dL, total cholesterol 155 mg/dL, LDL 79 mg/dL, triglycerides 277 mg/dL, albumin 3.1 g/dL, proteinuria 2.7 g/24 h, and negative screening for secondary causes of glomerulopathy. His kidney biopsy was consistent with advanced chronic nephropathy secondary to LPG. A genetic analysis also revealed the Osaka/Kurashiki variant. He was transplanted a year ago, displaying no signs of disease relapse. Conclusion We report two unrelated cases of Brazilian patients with a diagnosis of lipoprotein glomerulopathy whose genetic assessment identified the APOE-Osaka/Kurashiki pathogenic variant, previously only described in eastern Asians. While this is the second report of LPG in Latin America, the identification of two unrelated cases by our medical team raises the possibility that LPG may be less rare in this part of the world than currently thought, and should definitely be considered when nephrotic syndrome is associated with suggestive kidney biopsy findings.

Background Cyst infection is a prevalent complication in autosomal dominant polycystic kidney disease (ADPKD) patients, however therapeutic and diagnostic approaches towards this condition remain unclear. The confirmation of a likely episode of cyst infection by isolating the pathogenic microorganism in a clinical scenario is possible only in the minority of cases. The available antimicrobial treatment guidelines, therefore, might not be appropriate to some patients. Case presentation We describe two unique cases of kidney cyst infection by Candida albicans, a condition that has not been previously described in literature. Both cases presented clear risk factors for Candida spp. infection. However, since there was no initial indication of cyst aspiration and culture, antifungal therapy was not immediately started and empirical treatment was initiated as recommended by the current guidelines. Antifungal treatment was instituted in both cases along the clinical course, according to their specificities. Conclusion Our report highlights the possibility of Candida spp. cyst infection. Failure of clinical improvement with antibiotics should raise the suspicion of a fungal infection. Identification of infected cysts should be pursued in such cases, particularly with PET-CT, and when technically possible followed by cyst aspiration and culture to guide treatment. Risk factors for this condition, such as Candida spp. colonization, previous antimicrobial therapy, hemodialysis, necrotizing pancreatitis, gastrointestinal/hepatobiliary surgical procedure, central venous catheter, total parenteral nutrition, diabetes mellitus and immunodeficiency (neutropenia

Resumo Fundamento A pandemia da COVID-19 representa uma enorme carga para o sistema de saúde do mundo. Apesar de pacientes pediátricos terem sido relativamente poupados em comparação a adultos, estudos recentes mostraram um número crescente de pacientes críticos com Síndrome Inflamatória Multisistêmica Pediátrica (SIM-P) com disfunção cardiovascular importante. No entanto, pouco se conhece a respeito da relação entre anormalidades cardíacas e biomarcadores inflamatórios e de coagulação. Objetivos Investigar anormalidades ecocardiográficas em pacientes pediátricos com COVID-19 admitidos em um hospital terciário. Métodos Este foi um estudo longitudinal retrospectivo, baseado na revisão de prontuários médicos e ecocardiogramas de pacientes (0-19 anos) admitidos em um hospital terciário entre 30 de março e 30 de junho de 2020. Para a análise estatística, o nível de significância foi estabelecido em 5% (p+2,5). Anormalidades ecocardiográficas foram significativamente associadas com SIM-P, admissão na unidade de terapia intensiva pediátrica, suporte ventilatório/vasoativo, e morte ( p

APOL1 high-risk genotypes (HRG) are associated with increased risk of kidney disease in individuals of African ancestry. We analyzed the effects of APOL1 risk variants on an ethnically diverse Brazilian pediatric nephrotic syndrome (NS) cohort. Multicenter study including 318 NS patients, categorized as progressors to advanced CKD [estimated glomerular filtration rate (eGFR)] 30 mL/min/1.73 m2 through the study). We employed Cox regression with progression time as the outcome and APOL1 genotype as the independent variable. We tested this association in the entire cohort and three subgroups; (1) focal segmental glomerulosclerosis (FSGS), (2) steroid-resistant NS (SRNS), and (3) those who underwent kidney biopsy. Nineteen patients (6%) had an HRG. Of these, 47% were self-reported White. Patients with HRG manifested NS at older ages and presented higher frequencies of FSGS and SRNS. HRG patients progressed to advanced CKD more often than low-risk-genotype (LRG) children in the whole NS cohort (p = 0.001) and the three subgroups. In SRNS and biopsied patients, a single risk variant was associated with trends of higher CKD progression risk. Novel discoveries include a substantial prevalence of HRG among patients self-reported White, worse kidney outcomes in HRG versus LRG children in the FSGS subgroup, and a trend of higher CKD progression risk associated with a single risk variant in the SRNS cohort. These findings suggest APOL1-associated NS extends beyond patients self-reported non-White, the HRG effect is independent of FSGS, and a single risk variant may have a detrimental impact in children with NS.

APOL1 high-risk genotypes (HRG) are associated with increased risk of kidney disease in individuals of African ancestry. We analyzed the effects of APOL1 risk variants on an ethnically diverse Brazilian pediatric nephrotic syndrome (NS) cohort.Multicenter study including 318 NS patients, categorized as progressors to advanced CKD [estimated glomerular filtration rate (eGFR)]30 mL/min/1.73 mNineteen patients (6%) had an HRG. Of these, 47% were self-reported White. Patients with HRG manifested NS at older ages and presented higher frequencies of FSGS and SRNS. HRG patients progressed to advanced CKD more often than low-risk-genotype (LRG) children in the whole NS cohort (p = 0.001) and the three subgroups. In SRNS and biopsied patients, a single risk variant was associated with trends of higher CKD progression risk.Novel discoveries include a substantial prevalence of HRG among patients self-reported White, worse kidney outcomes in HRG versus LRG children in the FSGS subgroup, and a trend of higher CKD progression risk associated with a single risk variant in the SRNS cohort. These findings suggest APOL1-associated NS extends beyond patients self-reported non-White, the HRG effect is independent of FSGS, and a single risk variant may have a detrimental impact in children with NS.

OBJECTIVES: To assess the outcomes of pediatric patients with laboratory-confirmed coronavirus disease (COVID-19) with or without multisystem inflammatory syndrome in children (MIS-C). METHODS: This cross-sectional study included 471 samples collected from 371 patients (age50 mg/L (83% vs. 25%, p=0.008) and D-dimer levels >1000 ng/mL (100% vs. 40%, p=0.007) and the median D-dimer, troponin T, and ferritin levels (p

Objective: To identify risk factors for chronic kidney disease progression in Brazilian children and to evaluate the interactions between factors. Methods: This was a multicenter prospective cohort in São Paulo, involving 209 children with CKD stages 3–4. The study outcome included: (a) death, (b) start of kidney replacement therapy, (c) eGFR decrease >50% during the followup. Thirteen risk factors were tested using univariate regression models, followed by multivariable Cox regression models. The terms of interaction between the variables showing significant association with the outcome were then introduced to the model. Results: After a median follow-up of 2.5 years (IQR = 1.4–3.0), the outcome occurred in 44 cases (21%): 22 started dialysis, 12 had >50% eGFR decrease, seven underwent transplantation, and three died. Advanced CKD stage at onset (HR = 2.16, CI = 1.14–4.09), nephrotic proteinuria (HR = 2.89, CI = 1.49–5.62), age (HR = 1.10, CI = 1.01–1.17), systolic blood pressure Z score (HR = 1.36, CI = 1.08–1.70), and anemia (HR = 2.60, CI = 1.41–4.77) were associated with the outcome. An interaction between anemia and nephrotic proteinuria at V1 (HR = 0.25, CI = 0.06–1.00) was detected. Conclusions: As the first CKD cohort in the southern hemisphere, this study supports the main factors reported in developed countries with regards to CKD progression, affirming the potential role of treatments to slow CKD evolution. The detected interaction suggests that anemia may be more deleterious for CKD progression in patients without proteinuria and should be further studied. Resumo: Objetivo: Identificar os fatores de risco para progressão da DRC em crianças do Brasil e avaliar as interações entre os fatores. Métodos: Coorte prospectiva multicêntrica em São Paulo, envolvendo 209 crianças com DRC em estágios 3-4. O desfecho do estudo incluiu: a) óbito, b) início da terapia de substituição renal, c) redução de > 50% na taxa estimada de filtração glomerular (eGFR) durante o acompanhamento. Foram testados 13 fatores de risco com o modelo de regressão univariada seguido do modelo de regressão multivariado de Cox. Os termos de interação entre as variáveis mostraram associação significativa e foram introduzidos ao modelo. Resultados: Após média de acompanhamento de 2,5 anos (IIQ = 1,4 a 3,0), 44 casos (21%) apresentaram desfecho: 22 iniciaram diálise, 12 apresentaram redução de > 50% na eGFR, sete foram submetidos a transplante e três morreram. Estágio avançado de DRC no acometimento (RR = 2,16, IC = 1,14-4,09), proteinúria nefrótica (RR = 2,89, IC = 1,49-5,62), idade (RR – 1,10, IC = 1,01-1,17), escore Z da pressão arterial sistólica (RR = 1,36, IC = 1,08-1,70) e anemia (RR = 2,60, IC – 1,41-4,77) foram associados ao resultado. Foi detectada interação entre anemia e proteinúria nefrótica na primeira visita (V1) (RR = 0,25, IC = 0,06-1,00). Conclusões: Como a primeira coorte de DRC no hemisfério sul, este estudo é concordante com os principais fatores relatados em países desenvolvidos com relação à progressão da DRC, afirmando o possível papel dos tratamentos para mostrar a evolução da DRC. A interação detectada sugere que a anemia pode ser mais nociva na progressão da DRC em pacientes sem proteinúria e deve ser ainda mais estudada. Keywords: Chronic kidney disease, Epidemiology, Risk factors, Progressive patient care, Pediatrics, Palavras-chave: Doença renal crônica, Epidemiologia, Fatores de risco, Cuidado progressivo do paciente, Pediatria

Introduction: Steroid-resistant nephrotic syndrome (SRNS) affects both children and adults and has a high rate of progression to end-stage renal disease. Although a subset of patients have well-characterized genetic mutation(s), in the majority of cases, the etiology is unknown. Over the past 50 years, a number of case reports have suggested the potential impact of dietary changes in controlling primary nephrotic syndrome, especially gluten and dairy restrictions. Methods: We have designed a prospective, open-label, nonrandomized, pilot clinical trial, to study the effect of a gluten-free and dairy-free (GF/DF) diet in children with SRNS. The study will be organized as a 4-week summer camp to implement a GF/DF diet in a tightly controlled and monitored setting. Blood, urine, and stool samples will be collected at different time points during the study. Results: The primary end point is a reduction of more than 50% in the urine protein:creatinine ratio. The secondary end points include changes in urine protein, kidney function, and serum albumin, as well as effects in immune activation, kidney injury biomarkers, and gut microbiome composition and function (metagenomic/metatranscriptomic). Conclusion: This study will advance the field by testing the effect of dietary changes in patients with SRNS in a highly controlled camp environment. In addition, we hope the results will help to identify a responder profile that may guide the design of a larger trial for further investigation. Keywords: dairy-free, diet, gluten-free, pediatric summer camp, proteinuria, steroid-resistant nephrotic syndrome

The Brazilian collaborative registry for pediatric renal transplantation began in 2004 as a multicenter initiative aimed at analyzing, reporting, and disseminating the results of pediatric renal transplantation in Brazil. Data from all pediatric renal transplants performed from January 2004 to May 2018 at the 13 participating centers were analyzed. A total of 2744 pediatric renal transplants were performed in the thirteen participating centers. The median age at transplantation was 12.2 years, with the majority being male recipients (56%). The main underlying diseases were CAKUT (40.5%) and glomerulopathy (28%). 1981 (72%) of the grafts were from deceased donors (DD). Graft survival at one year (censored by death) was 94% in the live donor group (LD) and 91% in the DD group (log-rank test P

The aim of this study was to evaluate if health and oral health status of children and adolescents with different stages of CKD are associated with their health-related quality of life (HRQoL), oral health-related quality of life (OHRQoL) and socioeconomic and demographic conditions. One hundred children and adolescents with CKD were age and gender matched to 100 individuals without CKD (mean age ± SD = 13.04 ± 2.57). Oral health was characterised by means of gingival bleeding index (GBI), plaque index (PI), the decayed, missing, and filled teeth (DMFT) index and the developmental enamel defect (DED) index. All children and adolescents answered two Peds QL® instruments (general and oral health scales). Comparing the mean scores of HRQoL and OHRQoL between groups, we observed that CKD group demonstrated worse perceptions when compared to non-CKD group. Multiple linear regression analysis with bootstrap estimation of variance (1000 replications) showed association between dental caries experience (p

OBJECTIVES: To compare demographic/clinical/laboratory/treatments and outcomes among children and adolescents with laboratory-confirmed coronavirus disease 2019 (COVID-19). METHODS: This was a cross-sectional study that included patients diagnosed with pediatric COVID-19 (aged

Rationale Chronic kidney disease (CKD) and periodontitis (PD) are important health issues. There is a large variety of microorganisms related to the pathogenesis of periodontitis, and optimising the time and the cost of laboratory assays to detect these organisms is highly valuable in the medical field. Methods Bacteria were isolated from saliva and oral biofilm of 30 adolescents and young adults with definite medical and dental diagnosis of CKD and PD, respectively, and proteins were extracted for microorganism identification by means of the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) technique. Results The results showed that the most incident microorganisms were Actinomyces dentalis (43%), Acinetobacter ursingi (60%), Aggregatibacter actinomycetencomitans (60%), Corynebacterium argentoctens (63%), Staphylococcus aureus (93%), Streptococcus salivarius (97%) and Tannerella forsythensis (43%). The analysis of oral biofilm showed higher incidences for Actinomyces dentalis (33%), Acinetobacter ursingi (50%), Aggregatibacter actinomycetencomitans (50%), Corynebacterium argentoctens (70%), Pseudomonas aeruginosa (40%), Staphylococcus aureus (73%) and Streptococcus salivarius (87%). Conclusions Based on these results, we concluded that the MALDI Biotyper protocol proves useful as a rapid and reliable assay for distinguishing different microorganisms possibly related to CKD and PD. Copyright © 2016 John Wiley & Sons, Ltd.

Background Schistosoma mansoni schistosomiasis (SM) remains a public health problem in Brazil. Renal involvement is classically manifested as a glomerulopathy, most often membranoproliferative glomerulonephritis or focal and segmental glomerulosclerosis. We report a case of collapsing glomerulopathy (CG) associated with SM and high-risk APOL1 genotype (HRG). Case report A 35-year-old male was admitted for hypertension and an eight-month history of lower-limb edema, foamy urine, and increased abdominal girth. He had a recent diagnosis of hepatosplenic SM, treated with praziquantel, without clinical improvement. Laboratory tests revealed serum creatinine 1.89mg/dL, blood urea nitrogen (BUN) 24mg/dL, albumin 1.9g/dL, cholesterol 531mg/dL, low-density lipoprotein 426mg/dL, platelets 115000/mm3, normal C3/C4, antinuclear antibody (ANA), rheumatoid factor (RF), and antineutrophil cytoplasmic antibodies (ANCA), negative serologies for hepatitis C virus (HCV) and human immunodeficiency virus (HIV), HBsAg negative and AntiHBc IgG positive, no hematuria or leukocyturia, 24 hour proteinuria 6.56g and negative serum and urinary immunofixation. Kidney biopsy established the diagnosis of CG. A treatment with prednisone was started without therapeutic response, progressing to end-stage kidney disease 19 months later. Molecular genetics investigation revealed an HRG. Conclusions This is the first report of CG associated with SM in the setting of an HRG. This case highlights the two-hit model as a mechanism for CG pathogenesis, where the high-risk APOL1 genotype exerts a susceptibility role and SM infection serves as a trigger to CG., Author summary Schistosomiasis mansoni is still a public health problem in Brazil and renal involvement is described. In such cases, a glomerulopathy is the typical manifestation, most often membranoproliferative glomerulonephritis. In the current article, we report a patient with a recent diagnosis of hepatosplenic SM who was admitted for nephrotic syndrome associated with reduced renal function and hypertension. Kidney biopsy established the diagnosis of collapsing glomerulopathy (CG) and molecular genetics investigation identified a high-risk APOL1 genotype (HRG). Of note, HRG has been associated with increased risk to develop CG, and a two-hit model has been proposed for the genesis of this glomerulopathy. According to this model, a HRG represents the increased-susceptibility component, while an infection or other environmental factors could act as triggers for the development of CG. Based on those data and model, our case raises SM infection as a new trigger for this severe form of glomerulopathy. This is the first description of a case of CG associated with SM in a patient with an HRG. This case corroborates the interactive role between genetic and environmental factors in the pathogenesis of CG but also identifies SM infection as an additional trigger for its development.

BackgroundSmartphones have become a part of universal technology by combining mobile and handheld functions, enabling expanded access to health information sources available on the Internet. The purpose of this study was to describe the pattern of smartphones and Internet use to search for health information by parents of children with chronic kidney disease (CKD).MethodsIn a cross-sectional study, a questionnaire was applied to 111 parents of patients in a Brazilian pediatric nephrology center. Descriptive assessments were performed on Internet use patterns, and associative analyses were made of the influence of the smartphone use pattern on the search for health information.ResultsOf the 111 participants, 91% (101/111) accessed the Internet, 88% (89/101) searched for health information, and 90% (80/89) searched for CKD information. Smartphones were the most commonly used devices to access the Internet. There was no significant difference between age groups, schooling levels, places of residence and smartphone use to search information about CKD. Physicians continue to be primary sources of information (87%, 88/101), but now they share space with the Internet, which surpassed traditional sources such as books and other health professionals. There seems to be some discomfort on the part of the parents in admitting their research habit to the physician, considering that 65% (52/80) said they did not discuss the fact that they had looked for information on the Internet with their doctor. Obtaining more information about the disease and gaining knowledge regarding its complications were the main reasons that led to performing a search on the Internet, whose results were considered useful by 93% (74/80).ConclusionParents of children with CKD have been using the Internet largely through smartphones to research about CKD, irrespective of age, schooling and place of residence. Given its wide use, the Internet can be an important vehicle for health education and contribute to providing the support needed by parents and patients to cope with the disease.

O estudo objetiva avaliar o impacto da utilizacao de um software disponivel em aplicativo movel para a aprendizagem de conceitos do Pensamento Computacional e sua influencia sobre o desempenho cognitivo em criancas hospitalizadas. Desenvolveremos oficinas, onde sujeitos da pesquisa utilizarao uma arquitetura computacional para a criacao de jogos e animacoes. Para verificar o aprimoramento sobre conceitos do Pensamento Computacional serao utilizados analise de artefatos e entrevista ao final das oficinas. Para avaliar o nivel intelectual dos participantes utilizaremos a escala WISC-III pre e pos realizacao das oficinas.

Fleet enemas are hypertonic solutions with an osmotic action and a high concentration of phosphate. When retained in the human body they have a great toxic potential, causing severe hydro-electrolyte disorders in children, especially in newborns. We report the case of a previously healthy 8-day-old newborn who needed neonatal intensive care treatment after the inadvertent administration of an osmotically active hypertonic phosphate enema. Taking into account that phosphate removal by peritoneal dialysis (PD) strongly depends on total dialysate turnover, we chose continuous flow PD (CFPD) as the treatment option, with a successful outcome. Clinical experience with this dialytic modality is limited to a few case reports in pediatric and adult patients. To the best of our knowledge, we report here the first description of CFPD in the setting of acute phosphate nephropathy in the neonatal period. The modality of PD described here has potential as an alternative management option as it is a highly efficient, methodologically simple, and low-cost method without any need for sophisticated equipment. Physicians and parents should be aware of the adverse effects of a hypertonic phosphate enema and should never use these medications in infants and newborns.

OBJETIVO: Descrever a importância do tromboembolismo pulmonar (TEP) na síndrome nefrótica pediátrica e o uso da heparina de baixo peso molecular como opção terapêutica segura e eficaz. DESCRIÇÃO DO CASO: Menino de 5,7 anos com síndrome nefrótica córtico-resistente e glomérulo-esclerose segmentar e focal foi internado devido à diarréia, distúrbios eletrolíticos e anasarca. No 11º dia de internação, evoluiu com desconforto respiratório súbito, cuja investigação mostrou área de alta probabilidade de TEP na cintilografia pulmonar ventilação/perfusão e obstrução em veia jugular interna esquerda ao ultra-som doppler. Iniciado suporte ventilatório com nebulização de oxigênio e anticoagulação com enoxaparina (2mg/kg/dia). Após seis dias, evoluiu com sintomas neurológicos compatíveis com episódio isquêmico transitório, sem alteração na tomografia computadorizada de crânio. A monitorização do fator anti-Xa no soro demonstrou nível subterapêutico e a dose de enoxaparina foi ajustada para 3mg/kg/dia. O edema e os sintomas pulmonares melhoraram e o paciente recebeu alta hospitalar após 33 dias. COMENTÁRIOS: Embora o TEP seja raro em crianças, a síndrome nefrótica é uma condição pró-trombótica que favorece a complicação. A heparina de baixo peso molecular pode ser considerada no tratamento e na profilaxia secundária do TEP, sendo importante monitorizar o nível sérico do fator anti-Xa para ajustar sua dose e promover tratamento seguro e eficaz.

Chronic kidney disease (CKD) and periodontitis (PD) are important health issues. There is a large variety of microorganisms related to the pathogenesis of periodontitis, and optimising the time and the cost of laboratory assays to detect these organisms is highly valuable in the medical field.Bacteria were isolated from saliva and oral biofilm of 30 adolescents and young adults with definite medical and dental diagnosis of CKD and PD, respectively, and proteins were extracted for microorganism identification by means of the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) technique.The results showed that the most incident microorganisms were Actinomyces dentalis (43%), Acinetobacter ursingi (60%), Aggregatibacter actinomycetencomitans (60%), Corynebacterium argentoctens (63%), Staphylococcus aureus (93%), Streptococcus salivarius (97%) and Tannerella forsythensis (43%). The analysis of oral biofilm showed higher incidences for Actinomyces dentalis (33%), Acinetobacter ursingi (50%), Aggregatibacter actinomycetencomitans (50%), Corynebacterium argentoctens (70%), Pseudomonas aeruginosa (40%), Staphylococcus aureus (73%) and Streptococcus salivarius (87%).Based on these results, we concluded that the MALDI Biotyper protocol proves useful as a rapid and reliable assay for distinguishing different microorganisms possibly related to CKD and PD. Copyright © 2016 John WileySons, Ltd.

To describe a single-center experience with kidney transplantation and then study some donor and recipient features that may impact on graft survival and urological complication rates. We reviewed our database searching for pediatric patients who underwent kidney transplantation from August 1985 through November 2012. Preoperative data and postoperative complications were recorded. Graft survival rates were analyzed and compared based on the type of donor, donor's age from deceased donors, and recipients' ESRD cause. Kaplan-Meier curves with log rank and Wilcoxon tests were used to perform the comparisons. There were 305 pediatric kidney transplants. The mean recipient's age was 11.7 yr. The mean follow-up was 11.0 yr. Arterial and venous thrombosis rates were 1.6% and 2.3%, respectively, while urinary fistula and symptomatic vesicoureteral reflux were diagnosed in 2.9% and 3.6% of cases, respectively. Deceased kidney transplantation had a lower graft survival rate than living kidney transplantation (log rank, p = 0.005). Donor's age (p = 0.420) and ESRD cause (p = 0.679) were not significantly related to graft survival rate. In long-term follow-up, type of donor, but not donor's age, impacts on graft survival rate. ESRD cause has no impact on graft survival rate, showing that well-evaluated recipients may have good outcomes.

The Collaborative Brazilian Pediatric Renal Transplant Registry started in 2004 as a multicenter initiative aiming to analyze, report, and share the results of pediatric kidney transplantation in Brazil. Data from all pediatric kidney transplants performed between January 2004 and December 2013 were recorded electronically and periodically updated. All patients under 18 years old from the participating centers were enrolled. Demographic data, etiology of chronic kidney disease, and patient and graft survival were analyzed. From a total of 2443 pediatric kidney transplants performed in Brazil during the study period, we report data from 1751 pediatric renal transplants performed in 13 centers enrolled in the collaborative study. Median age at transplantation was 12.4 years, and most of recipients were male (56%). The most common underlying renal etiologies were obstructive uropathy (31%) and glomerulopathy (26%).According to donor source, 1155 (66%) of transplants were performed with deceased donors (DD). Initial immunosuppression consisted mainly of tacrolimus, mycophenolate, steroids, and induction therapy with anti-IL-2R antibodies.One-year graft survival (death-censored) was 93% and 90% (log rank test, P.01), respectively, for living donor (LD) and DD. Graft losses (15%) were most frequently caused by vascular thrombosis, chronic allograft nephropathy, death with functioning kidney, acute rejection, and recurrent renal disease. Recipients of DD had 2.02 (95% confidence interval: 1.14-3.59) times the hazard of graft loss compared with those of LD (P = .015). Patient survival rates at 1 and 5 years were 98% and 97% for LD and 97% and 93% for DD, respectively. The mortality rate was 3.8%, mainly as the result of infection and cardiovascular disease.The results of this collaborative pediatric transplant study are comparable to international registries. Our effort has been able to maintain an exchange of information, both among the participating centers and with other international registries.

SHU atypical (aHUS), that is, not associated with Escherichia coli Shiga toxinproducing, is seen in 5 to 10% of cases of Hemolytic Uremic Syndrome (HUS), and can occur at any age and may be sporadic or familial. The prognosis in these cases is reserved, with high mortality and morbidity in the acute phase of the disease, and about 50% of cases can develop chronic kidney disease. The increased knowledge of the pathogenesis of aHUS (overactivation of the alternative pathway of complement), was accompanied by the appearance of a drug, eculizumab, which acts as an inhibitor of membrane attack complex. Our goal is to report a case of infant with aHUS with excellent clinical and laboratory response with the use of eculizumab. 14 month old infant, previously healthy, male, presented anemia and thrombocytopenia at 12 months of age. He was treated with corticosteroids and forwarded to our service for high blood pressure. However, the scans showed nephrotic proteinuria with renal involvement and hypoalbuminemia with direct Coombs negative. He developed anemia, thrombocytopenia, worsening of renal function and hypertension. Renal biopsy showed thrombotic microangiopathy (TMA). On the non-hemolytic anemia, thrombocytopenia and acute renal failure with histological substrate MAT, was diagnosed of aHUS. The patient received eculizumab excellent clinical and laboratory response. This case shows the importance of early diagnosis and treatment of the aHUS. Eculizumab is effective and keeps long-term remission, avoiding invasive measures such as plasmapheresis, which resolves only part of the picture.