title: Quadriparesis due to Gitelman's syndrome diagnosed with thiazide diuretic test response.
abstract: Gitelman's syndrome is characterized by hypocalciuria, severe hypomagnesemia, and prominent muscular involvements such as fatigue, weakness, cramps, and tetany. It is due to mutations in the thiazide sensitive NaCl co-transporter in the distal convoluted tubule. The administration of thiazide diuretics may induce a subnormal increase of urinary Cl(-) excretion in patients with Gitelman's syndrome, consistent with the hypothesis that less than normal Cl(-) is reabsorbed by the thiazide-inhibitable transporter in Gitelman's syndrome. Thus, we report a case of Gitelman's syndrome presenting with quadriparesis diagnosed by using thiazide clearance test.
authors.affiliation: Department of Internal Medicine, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
authors.forename: Sumanto
authors.initials: S
authors.lastname: Mukhopadhyay
authors.forename: Suvendu
authors.initials: S
authors.lastname: Jana
authors.forename: Apratim
authors.initials: A
authors.lastname: Chatterjee
authors.forename: Manoj
authors.initials: M
authors.lastname: Roy
authors.forename: Anup
authors.initials: A
authors.lastname: Sarkar
authors.forename: Jotideb
authors.initials: J
authors.lastname: Mukhopadhyay
mesh_terms: D020022:Genetic Predisposition to Disease; D053579:Gitelman Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011782:Quadriplegia / Q000209:etiology*; D049993:Sodium Chloride Symporter Inhibitors / Q000008:administration & dosage*; D064486:Solute Carrier Family 12, Member 3 / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: C578874:SLC12A3 protein, human; D049993:Sodium Chloride Symporter Inhibitors; D064486:Solute Carrier Family 12, Member 3