The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension
Marguerite Hureaux, Stephani Mazurkiewicz, Valérie Boccio, Rosa Vargas‐Poussou, Xavier Jeunemaı̂tre
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: deletions had milder forms. Familial screening in 178 relatives allowed detection and care for 69 positive cases. Blood pressure and hyperkalemia were improved by hydrochlorothiazide in all groups. CONCLUSIONS: acidic motif genotype and reinforces the interest of genetic screening to better orientate medical care and genetic counseling.