Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

ABSTRACT:

Background and hypothesis

Podocytopathy associated with likely pathogenic/pathogenic variants of Transient receptor potential cation channel subfamily C member 6 (TRPC6) (TRPC6-AP) has been recognized for about 20 years. As a result of its rarity however, the spectrum of clinical phenotypes and genotype-phenotype correlation of TRPC6-AP remains poorly understood. Here, we characterized clinical, histological and genetic correlates of familial and sporadic patients with TRPC6-AP.

Methods

In this multicentre observational study, an online questionnaire followed by a systematic literature review was performed to create a cohort with comprehensive data on genetic and clinical outcomes [age of onset, clinical presentation, treatment response, kidney biopsy findings and progressio

SUBMITTER: McAnallen SM 

PROVIDER: S-EPMC12836101 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature