Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

ABSTRACT:

Background

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.

Methods

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.

Results

Twenty-nine children with NPHP were included. Nine children (31%) had NPHP1 mutations, and all presented with isolated nephropathy. Eighteen of 20 pati

SUBMITTER: Li J 

PROVIDER: S-EPMC10060285 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature