Referenced in: none

Automatically associated channels: Kir1.1

Title: Nephrocalcinosis as adult presentation of Bartter syndrome type II.

Authors: L Huang, G P M Luiken, I C van Riemsdijk, F Petrij, A A M Zandbergen, A Dees

Journal, date & volume: Neth J Med, 2014 Feb , 72, 91-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24659592

Abstract
Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCNJ1 mutation resulting in a remarkably mild phenotype of neonatal type Bartter syndrome.