The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.

ABSTRACT:

Introduction

Familial hyperkalemic hypertension is a rare inherited form of arterial hypertension. Four genes are responsible for this disease, the variants of these genes cause disruption in the regulation of ion transport in the distal renal tubule. Whether the genotype explains the large phenotypic heterogeneity has not been fully explored.

Methods

We retrospectively analyzed clinical and genetic data of 153 cases (84 probands, 69 relatives) with familial hyperkalemic hypertension.

Results

Pathogenic variants (25 novel variants) were identified as follows: KLHL3 (n = 50), CUL3 (n = 16), WNK1 acidic motif (n = 11), WNK4 acidic motif (n = 4) and WNK1 intron 1 deletions (n = 3). De novo cases were mainly observed in the CUL

SUBMITTER: Hureaux M 

PROVIDER: S-EPMC8484123 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature