Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

ABSTRACT:

Background and objectives

Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD.

Design, setting, participants, & measurements

We established an online-based registry (www.nephreg.de) to assess the clinical course of patients with nephronophthisis and related ciliopathies on a yearly base. Cross-sectional and longitudinal data were collected. Mean observation time was 7

SUBMITTER: Konig J 

PROVIDER: S-EPMC5718263 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature