[Bartter's syndrome].

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego

PubMedID: 15518434

Daniluk U, Kaczmarski M, Wasilewska J, Matuszewska E, Semeniuk J, Sidor K, Krasnow A. [Bartter's syndrome]. Pol Merkur Lekarski. 2004;16(95):484-9.
Bartter syndrome is an uncommon tubular disorder inherited as an autosomal recessive entity. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Recent studies have demonstrated genetic heterogeneity in Bartter syndrome. Mutations of two genes encoding the Na/K/2Cl cotransporter and potassium channel ROMK are responsible for clinical features of neonatal Bartter syndrome. Mutations of gen encoding the chloride channel ClC-Kb is identified as being causative for the classic Bartter syndrome. And dysfunction of Na/Cl cotransporter in the distal convoluted renal tubule is described as Gitelman syndrome.