Aldosterone signaling defect in young infants: single-center report and review.

ABSTRACT:

Background

Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic. This study aimed to obtain an overview of the etiology and clinical picture of patients with the above condition and report our rare cases.

Methods

A combination of retrospective review and case studies was conducted at the Pediatric Endocrine unit of The First Affiliated Hospital Sun Yat Sen University from September 1989 to June 2020.

Results

A total of 187 patients with SW were enrolled, of which 90.4% (n = 169) were diagnosed with congenital adrenal hyperplasia (CAH). SW type 21-hydroxylase deficiency accounted for 98.

SUBMITTER: Wijaya M 

PROVIDER: S-EPMC8272273 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature