title: [An asymptomatic chronic hypokalaemia].
abstract: We report the case of an asymptomatic patient presenting a severe chronic renal hypokalaemia. Once being sure of no diuretics use, two hypothesis can be mentioned for a normotensive patient presenting an hypokalaemia associated with a metabolic alcalosis: Bartter syndrome or Gitelman syndrome. The highlighting of low magnesaemia and hypocalciuria strongly concentrates the diagnosis on Gitelman syndrome. First, this has been strengthened by the results of renal function tests and later it has confirmed by molecular diagnosis with the identification of a known homozygous mutation on SLC12A3 gene. In the patient family, the same chromosomal abnormality has been found in the young sister. For these two patients the treatment ordered is an antikaliuretic diuretic, magnesium and potassium supplements. This case shows the difficulty to diagnose Gitelman syndrome: it is frequently mistaken for Bartter syndrome. The main differences between these two syndromes are magnesaemia and calciuria. Furthemore , patients with Gitelman syndrome are often asymptomatic, this explains why prevalence of this illness is probably underestimated.
authors: Laboratoire de biologie, Service de médecine interne, Hôpital d'instruction des armées Desgenettes, Lyon. mp0207@hotmail.fr
authors: Marie-Pierre
authors: MP
authors: Otto
authors: Valérie
authors: V
authors: Cheminel
authors: Lionel
authors: L
authors: Crevon
authors: Laurence
authors: L
authors: Dubourg
authors: Aoumeur
authors: A
authors: Hadj-Aissa
authors: Chantal
authors: C
authors: Mounier
authors: Jean-Michel
authors: JM
authors: Prevosto
mesh_terms: D000328:Adult; D000471:Alkalosis / Q000235:genetics; D001477:Bartter Syndrome / Q000175:diagnosis*; D002908:Chronic Disease; D003937:Diagnosis, Differential; D004232:Diuretics / Q000008:administration & dosage; D005260:Female; D053579:Gitelman Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007008:Hypokalemia / Q000235:genetics*; D008274:Magnesium / Q000008:administration & dosage; D009154:Mutation; D011188:Potassium / Q000008:administration & dosage; D011955:Receptors, Drug / Q000235:genetics*; D035781:Siblings; D064486:Solute Carrier Family 12, Member 3; D013148:Spironolactone / Q000008:administration & dosage; D027981:Symporters / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D004232:Diuretics; D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; D013148:Spironolactone; D008274:Magnesium; D011188:Potassium