Bartter syndrome consists a group of rare autosomalrecessive 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.

Hypercalciuria, KCNJ1 gene, Renal salt wasting, Renal tubulopathy
hdl.handle.net/1765/91998
The Netherlands Journal of Medicine
Erasmus MC: University Medical Center Rotterdam

Huang, L, Luiken, G.P.M, van Riemsdijk, I.C, Petrij, F, Zandbergen, A.A.M, & Dees, A. (2014). Nephrocalcinosis as adult presentation of bartter syndrome type II. The Netherlands Journal of Medicine, 72(2), 91–93. Retrieved from http://hdl.handle.net/1765/91998