title: [Bartter's syndrome].
abstract: 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.
authors.affiliation: III Klinika Chorób Dzieci Akademii Medycznej w Białymstoku.
authors.forename: Urszula
authors.initials: U
authors.lastname: Daniluk
authors.forename: Maciej
authors.initials: M
authors.lastname: Kaczmarski
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wasilewska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Matuszewska
authors.forename: Janusz
authors.initials: J
authors.lastname: Semeniuk
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sidor
authors.forename: Aleksander
authors.initials: A
authors.lastname: Krasnow
mesh_terms: D001477:Bartter Syndrome / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D018118:Chloride Channels / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D028021:Sodium-Potassium-Chloride Symporters / Q000235:genetics
chemical_list: D018118:Chloride Channels; C086989:KCNJ1 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D028021:Sodium-Potassium-Chloride Symporters