A case report of NPHP1 deletion in Chinese twins with nephronophthisis.

ABSTRACT:

Background

Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinical presentations, NPHP still poses a challenging task for nephrologists without special training to make a well-judged decision on its precise diagnosis, let alone its mechanism and optimal therapy.

Case presentation

A Chinese family with NPHP was recruited in current study. The clinical characteristics (including findings from renal biopsy) of NPHP patients were collected from medical records and the potential responsible genes were explored by the whole exome sequencing (WES). A homozygo

SUBMITTER: Chen F 

PROVIDER: S-EPMC7168837 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature