title: [Gitelman's syndrome: an important differential diagnosis of hypokalemia].
abstract: METHODS
  A 26-year-old woman presented with fatigue, muscle cramps and weakness. Since the age of 8 years she had moderate hypokalemia of unknown origin that was confirmed on multiple occasions. There was no family history of disease.
  
  
  METHODS
  Laboratory tests showed moderate to severe hypokalemia with a serum potassium concentration of 2.7 to 3.0 mmol/l, hypomagnesemia, metabolic alkalosis and pronounced stimulation of the renin-angiotensin-aldosterone system. Despite normal serum calcium levels, urinary calcium excretion was below the detection threshold. Increased natriuresis was observed after administration of furosemide, but not after administration of hydrochlorothiazide. This finding pointed to the presence of a non-functional thiazide-sensitive sodium/chloride cotransporter in the distal convoluted tubule, characteristic for Gitelman's syndrome. Genetic analysis confirmed the diagnosis of Gitelman's syndrome and documented two heterozygous mutations in the gene encoding the sodium/chloride cotransporter.
  
  
  METHODS
  The patient was treated with 160 mmol potassium and 30 mmol magnesium supplementation per day. Serum potassium was normalized and magnesium serum levels increased. Weakness and fatigue improved markedly.
  
  
  CONCLUSIONS
  Gitelman's syndrome is an important differential diagnosis in the evaluation of the normotensive patient with hypokalemia.
authors.affiliation: Klinik für Nephrologie und Rheumatologie, Heinrich-Heine-Universität Düsseldorf.
authors.forename: C
authors.initials: C
authors.lastname: Kurschat
authors.forename: P
authors.initials: P
authors.lastname: Heering
authors.forename: B
authors.initials: B
authors.lastname: Grabensee
mesh_terms: D000328:Adult; D000471:Alkalosis; D002118:Calcium / Q000097:blood / Q000652:urine; D002352:Carrier Proteins / Q000187:drug effects / Q000235:genetics* / Q000502:physiology; D003937:Diagnosis, Differential; D004232:Diuretics; D005221:Fatigue; D005260:Female; D005665:Furosemide; D006579:Heterozygote; D006801:Humans; D006852:Hydrochlorothiazide; D007008:Hypokalemia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D007684:Kidney Tubules / Q000187:drug effects / Q000503:physiopathology; D008274:Magnesium / Q000008:administration & dosage / Q000097:blood; D009120:Muscle Cramp; D018908:Muscle Weakness; D009318:Natriuresis / Q000187:drug effects; D009994:Osmolar Concentration; D017354:Point Mutation; D011188:Potassium / Q000008:administration & dosage / Q000097:blood; D022821:RNA Splice Sites / Q000235:genetics; D011955:Receptors, Drug / Q000187:drug effects / Q000235:genetics* / Q000502:physiology; D012084:Renin-Angiotensin System / Q000502:physiology; D049993:Sodium Chloride Symporter Inhibitors; D049992:Sodium Chloride Symporters; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D004232:Diuretics; D022821:RNA Splice Sites; D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D049993:Sodium Chloride Symporter Inhibitors; D049992:Sodium Chloride Symporters; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; C064415:thiazide receptor; D006852:Hydrochlorothiazide; D005665:Furosemide; D008274:Magnesium; D011188:Potassium; D002118:Calcium