[Bartter's syndrome and Gitelman's syndrome: Pathogenesis, pathophysiology, and therapy].
Bartter's syndrome was reported in 1962, and Gitelman's syndrome, which is subtype of Bartter's syndrome was described later. These syndromes are characterized by hypokalemia, hypochloremic metabolic alkalosis, normal to low blood pressure, although they show hyperreninemia, and hyperaldosteronemia. The cause of these diseases have been unexplained for a long time. Recently however, from 1996 to 2002, several causes have identified. Bartter's syndrome can occur due to a loss of function mutation in NKCC2, ROMK, CLC-Kb and barttin, or a gain of function mutation of calcium-sensing receptor. Gitelman's syndrome can occur due to a loss of function mutation in NCC. Different causes need different treatment and have different prognosis. In fact, we cannot examine all DNA sequences in regular hospitals. So it is our goal to make a clinical diagnostic standard to appropriate treatment.
Watanabe
Sumiyo
S
Division of Endocrinology and Nephrology, Department of Medicine, University of Tokyo School of Medicine.
Uchida
Shunya
S
D027321:Anion Transport Proteins / Q000235:genetics / Q000502:physiology; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001477:Bartter Syndrome / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D018118:Chloride Channels / Q000235:genetics / Q000502:physiology; D002762:Cholecalciferol / Q000627:therapeutic use; D052246:Cyclooxygenase 2 Inhibitors / Q000627:therapeutic use; D004573:Electrolytes / Q000008:administration & dosage; D005440:Fluid Therapy; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics / Q000502:physiology; D044169:Receptors, Calcium-Sensing / Q000235:genetics / Q000502:physiology; D049992:Sodium Chloride Symporters / Q000235:genetics / Q000502:physiology; D028021:Sodium-Potassium-Chloride Symporters / Q000235:genetics / Q000502:physiology; D064466:Solute Carrier Family 12, Member 1
D027321:Anion Transport Proteins; D000894:Anti-Inflammatory Agents, Non-Steroidal; C440005:BSND protein, human; C412733:CLCNKB protein, human; D018118:Chloride Channels; D052246:Cyclooxygenase 2 Inhibitors; D004573:Electrolytes; C086989:KCNJ1 protein, human; D008565:Membrane Proteins; D024661:Potassium Channels, Inwardly Rectifying; D044169:Receptors, Calcium-Sensing; C578714:SLC12A1 protein, human; D049992:Sodium Chloride Symporters; D028021:Sodium-Potassium-Chloride Symporters; D064466:Solute Carrier Family 12, Member 1; D002762:Cholecalciferol