[Bartter's syndrome].
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.
Daniluk
Urszula
U
III Klinika Chorób Dzieci Akademii Medycznej w Białymstoku.
Kaczmarski
Maciej
M
Wasilewska
Jolanta
J
Matuszewska
Elzbieta
E
Semeniuk
Janusz
J
Sidor
Katarzyna
K
Krasnow
Aleksander
A
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
D018118:Chloride Channels; C086989:KCNJ1 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D028021:Sodium-Potassium-Chloride Symporters