title: [Gitelman syndrome: a crucial role of laboratory medicine for the diagnosis].
abstract: We described a case of Gitelman syndrome. A 56-year-old healthy man presented with facial paralysis. Initial laboratory tests revealed hypokalemia. Despite potassium supplements, kaliemia remains at low levels. Further investigations showed urinary potassium wasting, hypomagnesemia and hypocalciuria. Diagnosis of Gitelman syndrome has been confirmed by molecular diagnosis with identification of a composite heterozygote mutation on SLC12A3 gene. One of the mutations on exon 1 SCL12A3 gene wasn't yet known. In the patient family, the same genetic disorder has been found in the sister. Treatment and follow up schedule were proposed to patient.
authors.affiliation: Laboratoire de biochimie, Centre hospitalier de la région d'Annecy, Pringy, France.
authors.forename: Bettina
authors.initials: B
authors.lastname: Murienne
authors.forename: Philippe
authors.initials: P
authors.lastname: Pointet
authors.forename: Gaspard
authors.initials: G
authors.lastname: Beaune
mesh_terms: D000465:Algorithms; D004252:DNA Mutational Analysis; D005158:Facial Paralysis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D053579:Gitelman Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D011955:Receptors, Drug / Q000235:genetics*; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics*
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters
keywords: Gitelman syndrome; genetic diagnostic; hypocalciuria; hypokalemia