Nephrocalcinosis as adult presentation of bartter syndrome type II
The Netherlands Journal of Medicine , Volume 72 - Issue 2 p. 91- 93
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.