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Author(s): Pinar Ozge Avar-Aydin [sup.1] , Zeynep Birsin Ozcakar [sup.1] , Nilgun Cakar [sup.1] , Suat Fitoz [sup.2] , Hatice Dilara Karakas [sup.1] , Fatos Yalcinkaya [sup.1] Author Affiliations: (1) [...], Introduction Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease with an increased risk for secondary amyloidosis. Since lifelong colchicine has been the treatment of choice that prevents renal amyloidosis, non-amyloid kidney diseases are more frequently considered in the differential diagnosis of proteinuria. Nutcracker syndrome (NCS) can be one of the confounding causes. This long-term retrospective study aimed to evaluate the causes of proteinuria in a pediatric cohort of patients with FMF and discuss changing trends in recent years. Methods Demographic, clinic, and laboratory data were extracted from electronic medical records of patients with FMF. All urine tests of the study population were reviewed. Patients were evaluated for persistent proteinuria and grouped according to the etiology of proteinuria. Results A total of 576 patients with FMF were identified with a mean follow-up of 6.3 years in the last 10 years; 8% had persistent proteinuria. The etiology was NCS in 67.5% of the patients with proteinuria, and renal amyloidosis was less commonly encountered (15%) without any new diagnosis for the last 8 years. Non-amyloid kidney diseases were also diagnosed in 17.5% of the patients. Patients with NCS had significantly lower BMI than other patients in the cohort and less subclinical inflammation, higher hemoglobin concentration, and milder levels of proteinuria with normal serum albumin and eGFR than other patients with proteinuria. Conclusion Nutcracker syndrome is the leading cause of proteinuria in children with FMF nowadays, and it should be kept in mind during the evaluation of proteinuria in these patients. Graphical Abstract A higher resolution version of the Graphical abstract is available as Supplementary information.

Introduction The inner ear is a complex organ that arises through a series of morphogenetic events from a simple embryologie structure, the otocyst. It consists of a dorsal vestibular system [...], Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. Genomic location of the overlapping deleted region started from approximately 350 kb downstream of GDF6, which codes for growth and differentiation factor 6. Otic lineage cells differentiated from induced pluripotent stem cells derived from an affected individual showed reduced expression of GDF6 compared with control cells. Knockout of Gdf6 in a mouse model resulted in cochlear aplasia, closely resembling the human phenotype. We conclude that GDF6 plays a necessary role in early cochlear development controlled by c/s-regulatory elements located within an approximately 500-kb region of the genome in humans and that its disruption leads to deafness due to cochlear aplasia.

Introduction Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than half of abdominal masses observed in neonates. The prevalence of CAKUT has been reported to range [...], Background Congenital anomalies of the kidney and urinary tract (CAKUT) commonly cause chronic kidney disease in children. While most CAKUT cases are sporadic, observed familial clustering suggests that the pathogenesis is influenced by genetic factors. Methods The purpose of the present study is to determine the frequency of the kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. A total of 218 index patients and their families followed at an academic hospital in Ankara, Turkey, were enrolled in the study. Results Family histories revealed at least one other member with a known kidney or urinary tract disease in 50% and CAKUT in 22.9% of the families. All asymptomatic first-degree relatives of 180 index patients were screened for kidney and urinary tract anomalies using ultrasound. New anomalies were diagnosed in 116 asymptomatic first-degree relatives (23%) in 87 families (48.3%). When family histories and ultrasound findings of 180 index patients were evaluated together, 129 first-degree relatives in 92 families (51.1%) had CAKUT. Conclusions This study suggests that genetic mechanisms might be very important in the pathogenesis of apparently sporadic CAKUT. Identification of the underlying gene mutations will provide further insights into the knowledge of the kidney and urinary tract development and pathogenesis of CAKUT. Keywords CAKUT * Familial clustering * First-degree relatives * Kidney and urinary tract anomalies * Renal ultrasound

Introduction Nutcracker syndrome (NS) refers to compression of the left renal vein (LRV) between the aorta and the superior mesenteric artery (SMA) which results in elevation of pressure in the [...], Nutcracker syndrome (NS) refers to compression of the left renal vein between the aorta and the superior mesenteric artery which results in left renal venous hypertension. The typical clinical presenting feature is hematuria. In this report we describe the case of patient with a single kidney who developed severe proteinuria due to NS. She was successfully treated with left renal vein transposition. This case clearly shows the relation between NS and severe proteinuria based on normal biopsy findings and the complete disappearance of proteinuria following surgery. Keywords Left renal vein transposition * Nutcracker syndrome * Proteinuria * Single kidney

Study is conducted to demonstrate the three different homozygous mutations such as p.S156P, p.R104X and p.V206SfsX117 in the fibroblast growth factor 3 (FGF3) gene affected members of these families, cosegregating with the autosomal recessive transmission as a completely penetrant phenotype. Findings show the involvement of FGF3 mutations in a human malformation syndrome.

Abstract Cystic nephroma (CN) is a rare, presumably benign, multilocular cystic renal tumor. Pulmonary sequestration (PS) also presents as cystic masses of non-functioning primitive lung tissue. We describe a 15-month-old [...]