{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Li J"],"funding":["Science and Technology Planning Project of Guangdong Province","Guangdong Provincial International Cooperation Base of Science and Technology","National Natural Science Foundation of China","Key Scientific and Technological Program of Guangzhou City","Guangdong Provincial Key Laboratory on Organ Donation and Transplant Immunology"],"pagination":["1609-1620"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10060285"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["38(5)"],"pubmed_abstract":["<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 pati"],"journal":["Pediatric nephrology (Berlin, Germany)"],"pubmed_title":["Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP."],"pmcid":["PMC10060285"],"funding_grant_id":["201803040011","2020B1212060026","2017B030314018","82170770","31800758","2015B020226002","201903010058","81870511","2020A0505020003","2017A020215012"],"pubmed_authors":["Fu Q","Li J","Liu L","Wang C","Zhang H","Wu C","Chen Y","Zhong X","Wu W","Su X"],"additional_accession":[]},"is_claimable":false,"name":"Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.","description":"<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 pati","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2025-04-05T13:22:13.889Z","creation":"2025-02-19T02:57:11.499Z"},"accession":"S-EPMC10060285","cross_references":{"pubmed":["36227438"],"doi":["10.1007/s00467-022-05763-3"]}}