Liangzhong Sun1, Huajuan Tong1,2, Haiyan Wang3, Zhihui Yue1, Ting Liu1, Hongrong Lin1, Jun Li4, Changxi Wang4. 1. Department of Pediatrics, Children's Kidney Diseases Center, Sun Yat-sen University, Guangzhou, China. 2. Department of Organ Transplantation, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China. 3. Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China. 4. Department of Pediatrics, PLA, Fuzhou General Hospital of Nanjing Command, Fuzhou, China.
Abstract
AIM: The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients. METHODS: Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical data were collected. RESULTS: Eighteen patients from 17 families were included in this study. Eight of 17 (47.1%) patients detected were identified to have mutations in NPHP3, but none had a mutation in NPHP2. Of the patients with NPHP3 mutations, four had compound heterozygous mutations, and the other four harboured single heterozygous mutations. Ten of the NPHP3 mutations were novel. Low molecular weight proteinuria was observed in all 16 detected patients. Renal histology were available in seven children, five patients showed infantile type NPHP features, and the other two patients from the same family showed juvenile type NPHP features. Liver involvement was observed in all patients with NPHP3 mutations and congenital heart disease in two patients harbouring NPHP3 mutation of c.2369 T > C (p.L790P). CONCLUSIONS: In this group of infantile NPHP patients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent. Genotype to phenotype correlations were observed in patients with NPHP3 mutations and all patients with NPHP3 mutations showed renal-hepatic phenotype.
AIM: The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients. METHODS:Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical data were collected. RESULTS: Eighteen patients from 17 families were included in this study. Eight of 17 (47.1%) patients detected were identified to have mutations in NPHP3, but none had a mutation in NPHP2. Of the patients with NPHP3 mutations, four had compound heterozygous mutations, and the other four harboured single heterozygous mutations. Ten of the NPHP3 mutations were novel. Low molecular weight proteinuria was observed in all 16 detected patients. Renal histology were available in seven children, five patients showed infantile type NPHP features, and the other two patients from the same family showed juvenile type NPHP features. Liver involvement was observed in all patients with NPHP3 mutations and congenital heart disease in two patients harbouring NPHP3 mutation of c.2369 T > C (p.L790P). CONCLUSIONS: In this group of infantile NPHPpatients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent. Genotype to phenotype correlations were observed in patients with NPHP3 mutations and all patients with NPHP3 mutations showed renal-hepatic phenotype.
Authors: Alexandra S Grillos; Jessica M Roach; Amanda M de Mestre; Alastair K Foote; Nicole B Kinglsey; Michael J Mienaltowski; Rebecca R Bellone Journal: Equine Vet J Date: 2022-02-01 Impact factor: 2.692
Authors: Jens Christian König; Rebeka Karsay; Joachim Gerß; Karl-Peter Schlingmann; Mareike Dahmer-Heath; Anna-Katharina Telgmann; Sabine Kollmann; Gema Ariceta; Valentine Gillion; Detlef Bockenhauer; Aurélia Bertholet-Thomas; Antonio Mastrangelo; Olivia Boyer; Marc Lilien; Stéphane Decramer; Joost P Schanstra; Martin Pohl; Raphael Schild; Stefanie Weber; Julia Hoefele; Jens Drube; Metin Cetiner; Matthias Hansen; Julia Thumfart; Burkhard Tönshoff; Sandra Habbig; Max Christoph Liebau; Martin Bald; Carsten Bergmann; Petra Pennekamp; Martin Konrad Journal: Kidney Int Rep Date: 2022-06-16