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pmid10546515      S+D+J+Med 1999 ; 52 (10): 377-80
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  • Gitelman s syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome #MMPMID10546515
  • Singh PJ; Nash JL; Santella RN; Zawada ET Jr
  • S D J Med 1999[Oct]; 52 (10): 377-80 PMID10546515show ga
  • 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.
  • |Adult[MESH]
  • |Alkalosis/diagnosis/*genetics[MESH]
  • |Diagnosis, Differential[MESH]
  • |Female[MESH]
  • |Humans[MESH]
  • |Hypocalcemia/diagnosis/*genetics[MESH]
  • |Hypokalemia/diagnosis/*genetics[MESH]
  • |Inappropriate ADH Syndrome/diagnosis/*genetics[MESH]
  • |Magnesium/blood/*metabolism[MESH]
  • |Prognosis[MESH]


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