title: Nephrocalcinosis as adult presentation of Bartter syndrome type II.
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.
authors.affiliation: Department of Internal Medicine, Ikazia Hospital Rotterdam, Rotterdam, the Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: Huang
authors.forename: G P M
authors.initials: GP
authors.lastname: Luiken
authors.forename: I C
authors.initials: IC
authors.lastname: van Riemsdijk
authors.forename: F
authors.initials: F
authors.lastname: Petrij
authors.forename: A A M
authors.initials: AA
authors.lastname: Zandbergen
authors.forename: A
authors.initials: A
authors.lastname: Dees
mesh_terms: D000328:Adult; D001477:Bartter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000209:etiology*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C086989:KCNJ1 protein, human; D024661:Potassium Channels, Inwardly Rectifying