Nephrocalcinosis as adult presentation of Bartter syndrome type II.
Lan Ji Huanga, G.P.M. Luiken, I C van Riemsdijk, Fred Petrij, Adrienne A.M. Zandbergen, Adriaan Dees
- aDepartment of Internal Medicine, Ikazia Hospital Rotterdam, Rotterdam, the Netherlands
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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.
TL;DRAn adult patient with a homozygous KCNJ1 mutation resulting in a remarkably mild phenotype of neonatal type Bartter syndrome is described. (Semantic Scholar)