Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

ABSTRACT:

Background

Genetic variants in SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin.

Methods

A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.73m²), hyperkalemia and acidosis. Genetic evaluation was performed by whole genome sequencing.

Results

The patient has a novel de novo heterozygous SEC61A1 variant, Phe458Val. Plasma renin was low or normal, aldosterone was low or undetectable and uromodulin was low. Kidney biopsy at 2 years exhibited subtle changes suggestive of tubular dysgenesis without tubulocystic

SUBMITTER: Karpman D 

PROVIDER: S-EPMC11317836 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature