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The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome.Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively.Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype-phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors.PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. "A higher resolution version of the Graphical abstract is available as Supplementary information".

Introduction: Chronic kidney disease and its complications are among the most frequent cause of morbidity and mortality in patients with meningomyelocele. Objective: In this study, we aimed to determine the risk factors leading to chronic kidney disease progression in these patients. Material and Method: Fifty patients with meningomyelocele were analyzed retrospectively. Age, gender, followup period, serum creatinine, glomerular filtration rate, vesicoureteral reflux (VUR), initial urodynamic findings and initiation time of clean intermittent catheterization (CIC) were noted. The progression of Chronic kidney disease (CKD) was evaluated by DMSA renal scintigraphy, changes in serum creatinine (Screa), and glomerular filtration rate (GFR). Results: 30 of the 50 patients were included in the study. VUR was detected in 63% of the patients, and scar was detected in 83% by renal scintigraphy. The median value of Screa was 0.5 mg/dl in admission, while the median Screa was 1.02 mg/dl (min-max: 0.27-5) at the last visit and the difference was statistically significant (p=0.001). A statistically significant was found between CKD progression and GFR in admission (p=0.001), CIC onset age (p=0.03), degree of VUR (p=0.046), presence of renal scar (p=0.002). It was shown that delay in admission (p=0.011; OR 1.36; CI 1.07-1.73) and low GFR in admission (p=0.036 OR 0.915 CI 0.842-0.994) were the most important risk factors. Conclusion: In our study, it was shown that delay in neurogenic bladder treatment, delay in the initiation of CIC, and low GFR at admission were important risk factors for the progression of CKD in children with meningomyelocele. Therefore, we aimed to emphasize the importance of regular follow-up of these children in Pediatric Nephrology Clinics from the neonatal period.

BACKGROUND The aim of the present study was to evaluate the presence of cardiac systolic and diastolic dysfunction in pediatric patients with steroid-sensitive nephrotic syndrome (NS). METHODS The study population consisted of 19 patients with debut-relapse of NS aged 1-18 years and 30 sex and age-matched healthy controls. Blood and urine samples, two M-mode conventional echocardiograms and tissue Doppler velocity imaging were evaluated in both attack and remission periods. RESULTS With regard to conventional pulse wave Doppler (cPWD), steroid-sensitive NS patients (both in debut / relapse and in remission periods) had a higher peak of late diastolic flow velocities (A peak), and patients in debut / relapse had a lower E/A ratio than the control group, indicating diastolic dysfunction (overall P = 0.003 and P = 0.006, respectively). Based on tissue Doppler velocity imaging echocardiography results, patients in debut/relapse had a higher A' and a lower E'/A' ratio (overall P < 0.001 and P = 0.001, respectively). There was also a significant difference in the cPWD E/TDI E' ratio between the patients showing an increased cPWD E/TDI E' ratio in remission periods compared to in debut/relapse periods (P = 0.09). The albumin levels were positively correlated with E'/A' and E/ E' ratio (r = 0.609; P = 0.007, r = 0.472; P = 0.041 respectively). CONCLUSIONS Systolic cardiac functions are preserved but diastolic functions are affected in steroid-sensitive NS patients both in debut/relapse and in remission periods in a relatively short time. The persistence of left ventricular (LV) dysfunction during the remission period requires special attention during the follow up for early detection of cardiac abnormalities.

Zinc is an essential micronutrient for the organism and is critical for the functional and structural integrity of cells. Determination of the amount of trace element concentrations in tissues such as hair samples have been used for the evaluation of the metabolic status especially in children. Unlike serum zinc, concentrations of zinc in hair are more stable and indicative of variations over time. The purpose of this study is to assess the zinc status of healthy school-age children in Kayseri (Turkey) by measuring the zinc level in hair samples and its association with BMI and the frequency of intake of zinc-rich foods. A total of 527 healthy children, including preadolescent (n = 360) aged 6-10 years and adolescent (n = 167) aged 11-15 years were included in this study. Hair samples were analyzed for zinc content by the inductively coupled plasma-mass spectrophotometry. Analysis of 527 healthy children showed that the mean hair zinc level was 186 ± 77 μg/g. Mean hair zinc level was lower in preadolescent age group than adolescents. There was no significant relationship between the monthly income of the family and the zinc-rich food intake and the zinc level of the hair. Our study shows that samples for analysis of zinc can be obtained with a noninvasive method for determining cases of deficiency during periods of rapid growth. However, further studies are needed to determine the normal tissue zinc level in healthy children, especially in our country and including different geographical regions.

Background/aim: There is limited data on COVID-19 disease in children with kidney disease. We aimed to investigate the characteristics and prognosis of COVID-19 in pediatric nephrology patients in Turkey. Materials and methods: This was a national, multicenter, retrospective cohort study based on an online survey evaluating the data between 11th March 2020 and 11th March 2021 as an initial step of a detailed pediatric nephrology COVID-19 registry. Results: Two hundred and three patients (89 girls and 114 boys) were diagnosed with COVID-19. One-third of these patients (36.9%) were between 10–15 years old. Half of the patients were on kidney replacement therapy: kidney transplant (KTx) recipients (n = 56, 27.5%), patients receiving chronic hemodialysis (n = 33, 16.3%) and those on peritoneal dialysis (PD) (n = 18, 8.9%). Fifty-four (26.6%) children were asymptomatic. Eighty-two (40.3%) patients were hospitalized and 23 (28%) needed intensive care unit admission. Fifty-five percent of the patients were not treated, while the remaining was given favipiravir (20.7%), steroid (16.3%), and hydroxychloroquine (11.3%). Acute kidney injury developed in 19.5% of hospitalized patients. Five (2.4%) had MIS-C. Eighty-three percent of the patients were discharged without any apparent sequelae, while 7 (3.4%) died. One hundred and eight health care staff were infected during the study period. Conclusion: COVID-19 was most commonly seen in patients who underwent KTx and received HD. The combined immunosuppressive therapy and frequent exposure to the hospital setting may increase these patients’ susceptibility. Staff infections before vaccination era were alarming, various precautions should be taken for infection control, particularly optimal vaccination coverage. © TÜBİTAK.

Background Coronavirus disease-2019 (COVID-19) has been challenging for patients and medical staff. Radical changes have been needed to prevent disruptions in patient care and medical education.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches. German Society for Pediatric Nephrology (GPN); ESCAPE Network; European Society for Paediatric Nephrology (ESPN); German PKD foundation; Koeln Fortune program; GEROK program of the Medical Faculty of University of Cologne; Marga and Walter Boll-Foundation; German Federal Ministry of Research and Education (BMBF)Federal Ministry of Education & Research (BMBF) [01GM1515, 01GM1903]; working group CAKUT of the ESPN; working group Inherited Kidney Diseases of the ESPN We thank the German Society for Pediatric Nephrology (GPN) and the ESCAPE Network for their support. We thank Mr Mathias Burgmaier (Aachen) and Mr Samuel Kilian (Heidelberg) for support in conducting statistical analysis. ML was supported by grants of the GPN, the European Society for Paediatric Nephrology (ESPN), the German PKD foundation, the Koeln Fortune program, the GEROK program of the Medical Faculty of University of Cologne, and the Marga and Walter Boll-Foundation. FS, CB, and ML are supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). KB was supported by the Koeln Fortune program and the GEROK program of the Medical Faculty of University of Cologne, as well as the Marga and Walter Boll-Foundation. This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet). The work was supported by the working groups CAKUT and Inherited Kidney Diseases of the ESPN.

Tam Metin / Full Text Q4 PMID: 34174796 WOS:000724833600003 SCI-Expanded Nephrocalcinosis (NC) is defined as calcium deposition in the kidney parenchyma and tubules. This study aims to determine the etiology, risk factors, and follow-up results of patients with NC in Turkey. Materials and methods: Patients diagnosed with NC in the pediatric nephrology Department Units of 19 centers from all geographical regions of Turkey over a 10-year period (2010–2019) were included in the study. The medical records from the centers were reviewed and demographic data, admission complaints, medical history, systemic and genetic disorders, risk factors for NC, treatment details, and presence of NC after one-year follow-up, were recorded retrospectively. Results: The study sample included 195 patients (88 females, 107 males). The mean age at diagnosis was 39.44 ± 47.25 (0.5–208) months; 82/190 patients (43.2%) were diagnosed incidentally; 46/195 patients (23.6%) had an underlying disease; idiopathic hypercalciuria was detected in 75/195 (38.4%) patients. The most common systemic diseases were distal renal tubular acidosis in 11/46 patients (23.9%), primary hyperoxaluria in 9/46 patients (19.6%) and Bartter syndrome in 7/46 patients (15.3%). After one year of follow-up, NC resolved in 56/159 patients (35.2%) and they all did not have an underlying systemic disease. Conclusion: The most common presentation of NC was incidental. Distal renal tubular acidosis and primary hyperoxaluria were the main systemic diseases leading to NC, while hypercalciuria was the most common metabolic risk factor. Nephrocalcinosis was found to remain in most of the patients at a one-year follow-up. It may resolve particularly in patients with no underlying systemic disease. Keywords: Bartter syndrome, hypercalciuria, nephrocalcinosis, renal tubular acidosis

Ozkaya, Ozan (isu author) First, we excluded the chronic state of this patient by looking at his previous creatinine value and experienced an acute rise in the plasma creatinine so defined as acute kidney injury (AKI) WOS:000540926200003 32556959 Q1

Ozkaya, Ozan (isu author) A 17-year-old male was admitted to a local hospital with complaints of vomiting, abdominal pain, and loose watery non bloody stools per 3 days. At the same time, he noticed a decrease in his urine output over the last 2 days. His past medical history was unremarkable. There was no history of ingesting undercooked meat, fever, ill contact, or taking any medication. He was the son of healthy non-consanguineous parents. On admission, hypotension and tachycardia was noted and physical examination was unremarkable. He had received intravenous fluid replacement for 2 days at this local hospital. Due to decrease in urine output and deterioration of his renal function (serum creatinine 4.6 mg/dl) with acidosis (pH 7.2, HCO3 10 mEq/l), the patient was transferred to our center WOS:000540926200001 32556957 Q1

Objective:Vesicoureteral reflux (VUR) is considered the most important predisposing factor for urinary tract infection (UTI). Renal damage due to VUR, subsequently renal scarring and the possibility of reflux nephropathy warrant early detection of VUR. Our aim was to evaluate the value of positioned instillation of contrast (PIC) cystography in the detection of VUR in children with recurrent UTI and a normal voiding cystourethrography (VCUG).Materials and Methods:PIC cystography was performed in each child with the indication of recurrent UTI with a normal VCUG between June 2015 and November 2017.Results:Thirty-four children (32 girls, 2 boys) aged 7 to 17 years (median, 10 years), were examined. Twenty (58.8%) patients had normal ultrasound and 12 patients (35.3%) had bilateral scars detected using 99mTc-dimercaptosuccinic acid (DMSA). Thirty-one (91.2%) patients were shown to have VUR on PIC cystography. Nine (29%) patients had no renal scar with positive PIC and 3 (12%) patients had scars with negative PIC. Scars were detected in 13 (72.2%) patients with grade I-II VUR, and 4 (30.8%) with grade III-IV VUR had no scars on DMSA. There was no significant difference between the results of PIC and DMSA renal scan. Twenty-six patients (76.5%) with PIC-VUR underwent simultaneous endoscopic injections. During the postoperative follow-up with an average of 12 months, 27 patients showed no evidence of febrile UTIs.Conclusion:Based on our results, PIC cystogram seems to be a good alternative to invasive voiding cystourethrogram in screening children for VUR.

Introduction: Brain natriuretic peptides, released in response to left ventricular stress, have a strong prognostic value in dialysis patients. However, their role in detecting abnormalities of fluid status is under debate; the relationship between volume status and brain natriuretic peptides (BNPs) differs among various studies. The aim of our study was to evaluate the clinical utility of N-terminal proBNP in the assessment of fluid status and cardiovascular risk in this setting. Material and methods: The study included 65 children: 10 pre-dialysis, 13 hemodialysis, 12 peritoneal dialysis patients and 30 healthy controls. Volume status was determined by multifrequency bioimpedance and NTpro- BNP, as well as echocardiography to estimate the left ventricle structure and function. Results: The median log NT-proBNP values of hemodialysis and peritoneal dialysis patients were 3.66 (2.05-4.90) and 3.57 (2.51-4.13) pg/ml, respectively, and significantly higher compared with the control group (p < 0.001, p < 0.001). On simple correlation, NT-proBNP was correlated with markers of volume overload and cardiac dysfunction. On multivariate regression analysis, only left ventricle mass index (? = 0.402, p = 0.003) and left atrium diameter (? = 0.263, p = 0.018) were independently associated with NT-proBNP (adjusted R2 of the model: 0.707, p < 0.001). Conclusions: Our research suggested that NT-proBNP, which was correlated with LV systolic and diastolic dysfunction and fluid overload as assessed by bioimpedance, can be used to evaluate cardiovascular states in a chronic kidney disease (CKD) population. From the early stages of CKD, periodic monitoring of NT-proBNP levels may be essential for early detection of patients with high risk of cardiovascular events, and for taking preventive intervention as soon as possible. Copyright © 2018 Termedia & Banach.

Beslenme, anne karnindan baslayarak bireyin yasam boyu sagliginin korunmasi, gelistirilmesi ve yasam kalitesinde en onemli faktorlerden biridir. Ozellikle cocukluk caginda kazanilan saglikli, yeterli ve dengeli beslenme aliskanliginin yasamin programlanmasindaki rolu net olarak anlasilmistir. Ayrica, kronik hastaligi olan cocuklarda hastaliga ozgu dogru beslenme morbidite ve mortaliteyi azaltmakta , hatta bazi kronik hastaliklarda beslenme, tedavinin onemli bir parcasini olusturmaktadir.Eriskin sagligi icin anahtar rol oynayan cocukluk donemi beslenmesi ve kronik hastaligi olan cocuklarin beslenmesinin duzenlenmesinde aile hekimleri ve cocuk sagligi hekimleri onemli bir gorev ustlenmektedir. Bu kitabin amaci, saglikli ve kronik hastaligi olan cocuklarin beslenmesi ile konulari, pratikte sik karsilastiklari sorunlari ve cozumlerini sade ve anlasilir bir sekilde sunmaktir. Bu amacimizdaki basari bizim icin en buyuk mutluluk olacaktir.Kitabin hazirlanmasinda degerli zamanlarini ayirarak katkida bulunan tum yazarlara ve kitabin basimina kadar olan surec icinde katkilari nedeniyle Akademisyen Yayinevi’ne tesekkur ederiz.

Ozcakar, Zeynep/0000-0002-6376-9189; DUZOVA, ALI/0000-0002-4365-2995; Gocmen, Rahsan/0000-0002-0223-9336 WOS: 000455971500011 PubMed: 30337132 BACKGROUND: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS: We report four new patients from two families with the c.437G -> A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome. (C) 2018 Elsevier Inc. All rights reserved.

ozkaya, ozan/0000-0002-0198-1221; WOS: 000419474500008 PubMed: 28751054 Background: Assessment of volume status and differentiating "underfill" and "overfill" edema is essential in the management of patients with nephrotic syndrome (NS). Objectives: Our aim was to evaluate the volume status of NS patients by using different methods and to investigate the utility of bioelectrical impedance analysis (BIA) in children with NS. Methods: The hydration status of 19 patients with NS (before treatment of NS and at remission) and 25 healthy controls was assessed by multifrequency BIA, serum N-terminal pro-brain natriuretic peptide (NT-proBNP) levels, inferior vena cava (IVC) diameter, left atrium diameter (LAD) and vasoactive hormones. Results: Renin, aldosterone levels, IVC diameter and LAD were not statistically different between the groups. NT-proBNP values were statistically higher in the attack period compared to remission and the control group (p=0.005 for each). Total body water (TBW), overhydration (OH) and extracellular water (ECW) estimated by the BIA measurement in the attack group was significantly higher than that of the remission group and controls. There were no significant correlations among volume indicators in group I and group II. However, significant correlations were observed between NT-proBNP and TBW/BSA (p=0.008), ECW/BSA (p=0.003) and ECW/ICW (p=0.023) in the healthy group. TBW was found to be higher in patients with NS in association with increased ECW but without any change in ICW. NT-proBNP values were higher in patients during acute attack than during remission. Conclusions: Our findings support the lack of hypovolaemia in NS during acute attack. In addition, BIA is an easy-to-perform method for use in routine clinical practice to determine hydration status in patients with NS. (C) 2017 Sociedad Espanola de Nefrologia. Published by Elsevier Espana, S.L.U. Ondokuz Mayis University Department of Scientific Research Projects We presented this study as a poster presentation in the 47th ESPN Congress in Porto, Portugal, September 18-20, 2014 (p206). This study was supported by Ondokuz Mayis University Department of Scientific Research Projects.

ozkaya, ozan/0000-0002-0198-1221; WOS: 000423817900025 PubMed: 29239128 Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography. A laboratory examination revealed nephrotic syndrome. She underwent surgery for a complete resection of the lesion. A histopathologic examination with Congo red and crystal violet dyes verified the diagnosis of amyloidoma. An immunohistochemical study for amyloid A protein was positive. A renal biopsy was also compatible with AA amyloidosis. A detailed search for the etiology of systemic amyloidosis revealed heterozygous mutation in the Mediterranean fever gene. Treatment with colchicine and anakinra were started with the diagnosis of familial Mediterranean fever because the other causes of secondary amyloidosis were ruled out. After 3 months of anakinra treatment, the laboratory findings returned to normal and excessive proteinuria disappeared. In countries where FMF and other autoinflammatory diseases are prevelant, systemic amyloidosis should be kept in mind in the differential diagnosis of children who present with nephrotic syndrome and abdominal mass. Taking previously reported cases and our case together, it appears that anti-interleukin-1 treatment represents a promising new approach in a subset of patients with systemic amyloidosis secondary to autoinflammatory diseases.

Renal involvement in non-Hodgkin lymphoma is a recognized development, but it mostly follows a diagnosis of lymphoma. We describe a rare case of a T-cell-type non-Hodgkin lymphoma that first presents as nephromegaly in a 5-year-old girl admitted to the emergency department with abdominal pain. Further investigation revealed bilateral nephromegaly, but the results of blood tests, imaging studies, and bone marrow aspiration were inconclusive. During the second week of hospitalization, significant physical examination revealed an enlarged lymph node in the anterior cervical chains, confirming a diagnosis of Non-Hodgkin's lymphoma. This case illustrates that it is important to have a high degree of suspicion in any patient presenting with unexplained enlarged kidneys without any identifiable cause because it could be the first presentation of a hematologic malignancy.

BACKGROUND The objective of this research was to evaluate the potential clinical utility of baseline hematological parameters measured on admission as adjuncts in the identification of complicated and uncomplicated appendicitis in children. METHODS The records of a total of 334 pediatric patients who underwent curative surgery for acute appendicitis (AA) between 2015 and 2016 were retrospectively investigated. The patients were categorized as complicated or uncomplicated appendicitis based on the histopathological reports. The clinical features and baseline hematological parameters of leukocyte count, neutrophil percentage, thrombocyte count, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), mean platelet volume (MPV), red cell distribution width (RDW), and platelet distribution width (PDW) of the groups were compared. RESULTS Complicated AA was determined in 36 (10.8%) patients. The white blood cell count (WBC) (p

Hepatocyte nuclear factor-1beta (HNF-1beta) is a transcription factor that is responsible for the development of kidney, pancreas, liver and genitourinary tract. Affected individuals may present a variety of renal developmental abnormalities and/or maturity-onset diabetes of the young type 5 (MODY 5). Here we report a boy with autosomal recessive polycystic kidney disease (ARPKD) diagnosed in neonatal period who developed insulin-dependent diabetes at the age of 11. He presented with poliuria and polydipsia. The diagnosis of ARPKD was made in neonatal period based on the findings of large hyperechogenic kidneys in antenatal ultrasound and no history of renal disease in parents. Laboratory investigations revealed hyperglycemia, glycosuria, and a reduced glomerular filtration rate (GFR). Based on autoantibody-negative diabetes and low-dose insulin requirement in addition to renal anomalies, he was suspected to have MODY 5. Genetic studies identified a known heterozygous HNF1B gene mutation (S148L) compatible with an MODY 5 phenotype. As a result, MODY 5 should be considered in children with developmental kidney disease and hyperglycemia. Also HNF-1beta mutations should be suspected in patients with undefined cystic kidney disease especially when associated with other systemic findings as in our case. World J Nephrol Urol. 2016;5(3):67-70 doi: http://dx.doi.org/10.14740/wjnu272w

Aim: To assess the usefulness of late dimercaptosuccinic acid (DMSA) renal scans in revealing high-grade vesicoureteral reflux (VUR). Material and Methods: Between July 2015 and December 2016, medical records of 112 patients who were admitted with febrile urinary tract infections (fUTIs) were retrospectively reviewed. The demographic information of the patients, and follow-up imaging [ultrasonography (USG), DMSA renal scans, and voiding cystourethrography] data were reviewed.Results: Of the 112 patients, 82 patients (73.2%) were female, 30 were male (26.8%), and the mean age was 7.04 ± 3.94 years. Recurrent fUTIs were detected in 65 patients (58%). Of the patients, 68 (60.7%) had abnormal urinary system USG, and 74 (66.1%) had abnormal DMSA renal scans. Vesicoureteral reflux (VUR) was detected in 63 patients (56.3%). VUR was present in 49 (66.2%) of 74 patients with scarring in DMSA and detected in 14 (38.8%) of 38 patients with normal DMSA scans. Significant agreement (kappa: 0.274 / p=0.003) was found between DMSA and VUR results. The sensitivity, specificity and positive predictive values of late DMSA renal scan to predict VUR were 77.8 %, 49 % and 63.2% respectively.Conclusion: Abnormal late DMSA scans carry a higher sensitivity and positive predictive value for predicting high-grade VUR in children with recurrent fUTIs. Late DMSA imaging seems a useful option in screening for high-grade VUR in children when the acute interventions are limited.

Bastug F, Nalcacioglu H, Bas VN, Tekatli-Celik B, Cetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Infantile hypercalcemia has been reported in 15% of infants and children with Williams-Beuren syndrome (WBS) and has generally mild clinical symptoms. However, the need for pamidronate treatment in a few infants with severe hypercalcemia associated with WBS has been reported in literature. Many disorders, such as primary hyperoxaluria, associated with nephrocalcinosis can lead to renal failure, but there are only a few reports in infants with WBS who have decreased renal function and nephrocalsinosis. We present a 23-month-old girl with WBS (confirmed with fluorescent in situ hybridization probes) who presented with acute renal failure with severe symptomatic hypercalcemia and nephrocalcinosis, which responded to two infusions of pamidronate.

A 6-year-old Syrian boy presented with complaints of facial dysmorphism and difficulty of walking. He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity. Galactose-6 sulphatase enzyme level was 0.1 nmol/mg.17 h (reference range,68 nmol/mg.17 h), compatible with Morquio syndrome. On laboratory examinations, potassium level was 2.9 mmol/L (reference range, 3.5 mmol/L to 5.1 mmol/L), sodium level was 130 mmol/L (reference range, 135 mmol/L to 148 mmol/L), and chloride level was 92 mmol/L (reference range, 101 mmol/L to 109 mmol/L). Blood pH was 7.5 and bicarbonate level was 31 mEq/L. Urine sodium and chloride levels were high. Arterial blood pressure was normal and these findings were consistent with Bartter syndrome. This is the first report of a patient with the association of Bartter syndrome and mucopolysaccharidosis type 4A, which was thought to be coincidental.

be partially treated with bicarbonate, bone marrow transplantation or possibly gene therapy. WOS:000443998400506 Q1

ozkaya, ozan/0000-0002-0198-1221; Yakupoglu, Yarkin Kamil/0000-0002-4764-0289; WOS: 000430184300017 PubMed: 29388304 Renal transplant recipients are on long-term potent immunosuppressive therapy, which makes them highly vulnerable to opportunistic fungal infections. Dematiaceous, or dark-pigmented saprophytic fungi, are being increasingly seen as opportunistic pathogens of mycoses in immunosuppressed patients. One of these is Aureobasidium pullulans, which is a black yeast-like dematiaceous fungus found ubiquitously in the environment that can cause various opportunistic human infections. Most infections occur by traumatic inoculation, such as keratitis and cutaneous lesions; disseminated mycoses are very rare and occur only in severely immunocompromised patients. We report a case of disseminated fungal infection due to A.pullulans in a pediatric patient who underwent renal transplant. The use of voriconazole and vacuum-assisted closure along with surgical drainage most likely contributed to the patient's positive outcome.

Nephrotic syndrome has been associated with increased risk of cardiovascular diseases (CVD), which may be attributable to the hypoalbuminemia, dyslipidemia, hypercoagulopathy or inflammatory activation. In childhood minimal change disease is less prone to CVD because of the transient nature of the metabolic abnormalities and steroid exposure. The aim of the present study was to evaluate the presence of cardiac systolic and diastolic dysfunction in pediatric patients with steroid – sensitive nephrotic syndrome (SSNS). WOS:000443998400393 Q1

The purpose of this study was to evaluate the clinical characteristics of 44 pediatric patients who were diagnosed as having nutcracker syndrome (NCS). We also investigated the left renal vein Doppler ultrasonography (DUS) results, to determine whether or not there was an association between clinical symptoms and DUS findings among these patients. The clinical data from 44 pediatric patients who were diagnosed as having NCS from January 2008 to December 2015 were retrospectively reviewed. We grouped the patients according to the presenting symptoms as symptomatic (loin pain, macroscopic hematuria or both) and non-symptomatic (microscopic hematuria and proteinuria were detected incidentally) and evaluated the left renal vein DUS indices in these two groups separately. Asymptomatic NCS was found in 27 (61.4%) patients, 21 (47.7%) of whom were admitted for the evaluation of proteinuria. The most frequent presenting symptoms were left flank pain (20.5%) and macroscopic hematuria (13.6%), and 2 (4.5%) patients presented with a combination of left flank pain and macroscopic hematuria. The mean ratio of the diameter of the hilar portion of the left renal vein (LRV) to that of the aortomesenteric portion was 4.36 ± 1.55. The mean ratio of the peak velocity (PV) between the two sites of the LRV was 7.32 ± 2.68 (3.1–15.6). The differences in the ratio of the diameters were statistically significant between the two groups and significantly higher in children with asymptomatic NCS (p = 0.025). The PV ratios of the LRV (p = 0.035) were significantly higher in asymptomatic children with NCS than in the symptomatic group. Our study identifies that increased compression ratio of the LRV entrapment is most observed in orthostatic proteinuria and microscopic hematuria.

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disease with a severe phenotype often presenting prenatally or in early childhood. With its obligate renal and hepatic involvement, ARPKD is one of the most important indications for liver and/or kidney transplantation in childhood. Marked phenotypic variability is observed, the genetic basis of which is largely unknown. Treatment is symptomatic and largely empiric as evidence-based guidelines are lacking. Therapeutic initiatives for ARPKD face the problem of highly variable cohorts and lack of clinical or biochemical risk markers without clear-cut clinical end points. ARegPKD is an international, multicenter, retro- and prospective, observational study to deeply phenotype patients with the clinical diagnosis of ARPKD. Initiated in 2013 as a web-based registry (www.aregpkd.org), ARegPKD enrolls patients across large parts of Europe and neighboring countries. By January 2017, more than 400 patients from 17 mostly European countries have been registered in the ARPKD registry study with significant follow-up data. Due to comprehensive retro- and prospective data collection and associated biobanking, ARegPKD will generate a unique ARPKD cohort with detailed longitudinal clinical characterization providing a basis for future clinical trials as well as translational research. Hence, ARegPKD is hoped to contribute to the pathophysiological understanding of the disease and to the improvement of clinical management. ispartof: Frontiers in Pediatrics vol:5 pages:18- ispartof: location:Switzerland status: published

AVCI, Bahattin/0000-0001-6471-6495; ozkaya, ozan/0000-0002-0198-1221; WOS: 000408418900229 …

Paç Kısaarslan A, Sözeri B, Baştuğ F, Gündüz Z, Yel S, Nalçacıoğlu H, Şahin N, Özdemir Çiçek S, Poyrazoğlu H, Düşünsel R. Elemental mercury intoxication in 7 patients admitted to a pediatric rheumatology clinic. Turk J Pediatr 2019; 61: 786-790. Mercury (Hg) is a toxic heavy metal that can be classified into three groups; organic (methyl), inorganic (mercuric), and elemental (metallic) mercury(Hg0). Mercury intoxication occurs mostly with the elemental form which can potentially damage the function of any organ, or any subcellular structure. The target organ of mercury is the brain, but peripheral nerve function, renal function, immune function, endocrine and muscle function, and several types of dermatitis have been described. We present 7 patients admitted to a pediatric rheumatology clinic with severe extremity pain. One of the patients had acrodynia, two of them had hypertension, two of them had tubulopathy, and three of them had neuropathy. The treatments were Dimercaptosuccinic acid and metalcaptase. In this report, we emphasize that mercury intoxication should be kept in mind with unexplained extremity pain. Timely diagnosis and treatment may prevent severe morbidity and mortality.

ozkaya, ozan/0000-0002-0198-1221; Yakupoglu, Yarkin Kamil/0000-0002-4764-0289; Ozden, Ender/0000-0003-3196-4024 WOS: 000315284900019 PubMed: 23099233 Bilateral obstructive nephrolithiasis is a rare cause of acute kidney injury (AKI) in early childhood. As soon as the identification of AKI secondary to ureteral stone is made, it will necessitate an emergency treatment. Patients: We report three infants with AKI caused by bilateral obstructive ureteral cystine stones. They were diagnosed with acute post-renal injury due to obstructive bilateral ureteral stones based on ultrasound scan findings. Immediately, bilateral ureteral stents were inserted for urinary drainage. Once renal function recovered to normal, each patient underwent ureteroscopy and percutaneous nephrolithotomy at the same session. Cystinuria was diagnosed by stone analysis and increased urinary excretion of cystine. Patients were advised to maintain a high fluid intake and were treated with potassium citrate in addition to tiopronin. Conclusions: With these three cases we would like to emphasize the importance of urolithiasis in the differential diagnosis of acute renal failure in young children, since urolithiasis may only cause nonspecific symptoms in this population. An early diagnosis with prompt treatment and a close follow-up are the key for achieving the best long-term outcome in cystinuria. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Yakupoglu, Yarkin Kamil/0000-0002-4764-0289; ozkaya, ozan/0000-0002-0198-1221; AYGUN, CANAN/0000-0002-7955-5943 WOS: 000308388200003 PubMed: 22845763 Objectives: Infectious diseases, even vaccine preventable ones, might affect transplanting and the life course in pediatric solid-organ recipients. Owing to immunosuppression and decreased antibody production, susceptibility to infections is increased in these patients. Materials and Methods: The present study was designed to assess the vaccination and antibody status of the pediatric renal transplant patients. Fifty-one patients who were admitted to the regional transplant center for renal transplant were retrospectively evaluated. Patient's vaccination charts were examined, and their immunization status was determined by antibody titers against hepatitis B, hepatitis A, measles, mumps, rubella, and varicella. Results: The study group was composed of 23 males and 28 females (mean age, 10.8 y; age range, 2-17 y). All patients' vaccination status was appropriate with their ages according to national vaccination program. Antibodies were positive for hepatitis B in 84.3% patients, 76.5% for hepatitis A, 72.5% for measles, 64.7% for mumps, 64.7% for rubella, and 72.5% for varicella. Conclusions: Seronegativity for common childhood diseases may complicate the posttransplant period owing to increased risk of infections. Especially in developing countries, immunization protocols and vaccination program schedules should be reviewed before transplant to prevent serious complications caused by these diseases.

Aim: Maintaining euvolemia is an important purpose in patients on hemodialysis therapy. Multiple-frequency bioimpedance spectroscopy (BIS) appears to be a useful and appropriate technique for assessing hydration status and body composition in hemodialysis patients.The aims of this study were to determine the pre and post hemodialysis hydration status of the pediatric hemodialysis patients by BIS and compare the dry weight determined by BIS to established by clinically. Material and Methods: Body Composition Monitor (BCM; Fresenius Medical Care, Germany) was performed in 13 pediatric hemodialysis patients in a single center. Patients were measured at the midweek session, once immediately before and once 30 minutes after dialysis. Pre-and post-HD weights, blood pressures, were collected on the day of the BCM measurements. Results: Seven (53.8%) of the 13 patients were male and 6 (46.2%) were female. The mean age ranged from 11.92 ± 3.13 (5.7-16) years and duration time ranged from 7 to 54 months, and the median duration of dialysis was 11 months. Dry weights which was determined clinically were higher than those calculated by BCM. A significant difference was found between mean values (34,71 ± 12,68 versus 33,71 ± 12,16 kg, Δ: 1 ± 1,51, p = 0.035). There was a high positive correlation between dry weights measured by BCM and dry weight established by nephrologists (r = 0.993, p

ozkaya, ozan/0000-0002-0198-1221; Ozdemir, B Handan/0000-0002-7528-3557; KECELIGIL, HASAN TAHSIN/0000-0002-8256-8059 WOS: 000336434600022 PubMed: 24464478 Dense deposit disease (DDD) (also known as membranoproliferative glomerulonephritis type II) in childhood is a rare glomerulonephritis with frequent progression to end-stage renal disease (ESRD) and a high recurrence after kidney transplantation. The pathophysiologic basis of DDD is associated with the uncontrolled systemic activation of the alternative pathway (AP) of the complement cascade. A 14-year-old girl presented with edema and nephrotic range proteinuria. Blood tests showed hypoalbuminemia, nephrotic range proteinuria, normal renal function, and a low C3 level. Renal biopsy confirmed the diagnosis of crescentic DDD. Complement analysis revealed strong AP activation (low C3), positive C3 nephritic factor (C3NeF), and a decreased complement factor H (CFH) levels with CFH polymorphisms. Therapy with eculizumab was considered after the failure of corticosteroid and plasmapheresis to modulate the ongoing massive proteinuria and persistence of low serum C3 levels. There was a marked clinical and biochemical response following the administration of eculizumab. Our case emphasizes the efficacy of eculizumab in the management of crescentic DDD in a patient with a normal renal function, in a short follow-up period. Considering previously reported cases, it appears that eculizumab represents a promising new approach which may prevent progression to ESRD in a subset of patients with DDD.

PubMed: 24979093 Purpose: To examine functional capacity and muscle strength in children and youth with familial Mediterranean fever (FMF) as compared with controls, and to assess whether these factors influence quality of life (QOL) in FMF. Methods: A total of 100 subjects with FMF and 55 control subjects (8-18 years old) without known health issues were enrolled in the study. The 6-Minute Walk Test (6MWT) was used to evaluate functional capacity. Quadriceps strength was measured with a hand-held dynamometer. Quality of life was evaluated with the Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0). Results: Significant differences were found between subjects with FMF and controls in the 6MWT and strength test. PedsQL scores of subjects with FMF were significantly lower than the scores of the controls. The 6MWT and quadriceps strength were weakly correlated with the PedsQL. Conclusion: Subjects with FMF displayed lower functional capacity and QOL than peers who are healthy. Decreased functional capacity was correlated with decreased QOL in those with FMF. Copyright © 2014 Wolters Kluwer Health|Lippincott Williams & Wilkins and Section on Pediatrics of the American Physical Therapy Association.