Genetic analysis of a case of Gitelman syndrome.

Yamashiki, Junko; Terui, Ken; Hirai, Yuichi; Hasegawa, Noriyuki; Tamura, Michiko; Ishiguro, Atsushi; Suda, Toshio; Yasujima, Minoru; Miyake, Shoji; Tsutaya, Shoji

doi:10.2169/naika.91.3503

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“…The most frequent clinical symptoms observed in patients are tetany and cramp (n=8), followed by muscle weakness and paralysis (n=7) and fatigue (n=6). The others are numbness, nausea, vomiting, abdominal pain, diarrhea, joint pain, growth retardation, dyspnea, and unstable feeling (4,(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). The depressive state seen in this case is not common.…”

Section: Discussionmentioning

confidence: 80%

Depressive State and Paresthesia Dramatically Improved by Intravenous MgSO4 in Gitelman's Syndrome

et al. 2004

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A 69-year-old woman was referred to our department for evaluation of hypokalemia, which had been treated by oral potassium for more than ten years. She complained of headache, knee joint pain, sleeplessness and paresthesia in extremities and, most prominently, depression. Laboratory data suggested Gitelman's syndrome, which is caused by mutations in the gene encoding the thiazide-sensitive Na-Cl cotransporter.

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