Clinical and diagnostic features of Bartter and Gitelman syndromes.

ABSTRACT:

Background

Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.

Methods

Long-term longitudinal data were analysed for 45 children with pathogenic variants in SLC12A1 (n = 8), KCNJ1 (n = 8), CLCNKB (n = 17), BSND (n = 2) and SLC12A3 (n = 10) seen at a single centre between 1984 and 2014. Median follow-up was 8.9 [interquartile range (IQR) 0.7-18.1] years.

Results

Polyhydramnios and prematurity were seen in children with SLC12A1 and KCNJ1 mutations. Patients with CLCNKB mutations had the lowest serum potassium and serum magnesium and the highest

SUBMITTER: Walsh PR 

PROVIDER: S-EPMC6007694 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature