Gitelman's syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome.

Autor: Singh PJ; Internal Medicine Service, Jackson Medical Center, MN, USA., Nash JL, Santella RN, Zawada ET Jr
Jazyk: angličtina
Zdroj: South Dakota journal of medicine [S D J Med] 1999 Oct; Vol. 52 (10), pp. 377-80.
Abstrakt: A case of refractory hypomagnesemia associated with hypokalemic alkalosis and hypocalciuria (Gitelman's syndrome) is described. The genetic mutations discovered to cause the hypokalemic alkalotic syndromes are described (the thiazide-sensitive sodium chloride co-transporter gene or TSC mutations in Gitelman's syndrome, and the sodium-potassium-chloride co-transporter gene or NKCC2 mutations in Bartter's syndrome). The molecular, electrolyte, and volume abnormalities are described, and the implications for diagnosis, therapy, and future research discussed.
Databáze: MEDLINE