biostudies-literatureLi JScience and Technology Planning Project of Guangdong ProvinceGuangdong Provincial International Cooperation Base of Science and TechnologyNational Natural Science Foundation of ChinaKey Scientific and Technological Program of Guangzhou CityGuangdong Provincial Key Laboratory on Organ Donation and Transplant Immunology1609-1620https://www.ebi.ac.uk/biostudies/studies/S-EPMC10060285biostudies-literatureUnknown38(5)<h4>Background</h4>Nephronophthisis-related ciliopathies (NPHP-RC) have strong genotype and phenotype heterogeneity, and the transplantation strategy of Boichis syndrome is still controversial. Our purpose was to examine associations of genotype and phenotype in children with NPHP-RC and analyze the transplantation strategies of different phenotypes.<h4>Methods</h4>The records of children with NPHP treated at our center from 01/2018 to 03/2021 were retrospectively reviewed. Inclusion criteria were a diagnosis of NPHP, received kidney transplantation, and received whole exome sequencing (WES) or nephropathy gene panel testing.<h4>Results</h4>Twenty-nine children with NPHP were included. Nine children (31%) had NPHP1 mutations, and all presented with isolated nephropathy. Eighteen of 20 patiPediatric nephrology (Berlin, Germany)Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.PMC100602852018030400112020B12120600262017B03031401882170770318007582015B020226002201903010058818705112020A05050200032017A020215012Fu QLi JLiu LWang CZhang HWu CChen YZhong XWu WSu XfalseGenotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.<h4>Background</h4>Nephronophthisis-related ciliopathies (NPHP-RC) have strong genotype and phenotype heterogeneity, and the transplantation strategy of Boichis syndrome is still controversial. Our purpose was to examine associations of genotype and phenotype in children with NPHP-RC and analyze the transplantation strategies of different phenotypes.<h4>Methods</h4>The records of children with NPHP treated at our center from 01/2018 to 03/2021 were retrospectively reviewed. Inclusion criteria were a diagnosis of NPHP, received kidney transplantation, and received whole exome sequencing (WES) or nephropathy gene panel testing.<h4>Results</h4>Twenty-nine children with NPHP were included. Nine children (31%) had NPHP1 mutations, and all presented with isolated nephropathy. Eighteen of 20 pati2023-01-01T00:00:00Z2023 May2025-04-05T13:22:13.889Z2025-02-19T02:57:11.499ZS-EPMC100602853622743810.1007/s00467-022-05763-3