Gitelman Syndrome 737g66h 737g66h 737g66h 737g66h 737g66h 737g66h 737g66h 737g66h 737g66h 737g66h
General: Autosomal recessive, renal tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and hypernatremia.
Ocular: Sclerochoroidal calcification.
Clinical: Patients may have arthralgias, seizures, episodes of tetany, muscular weakness, or paresthesia; also may be asymptomatic.
Al-Ghamdi SM, Cameron EC, Sutton RA. Magnesium deficiency: pathophysiologic and Clinical review. Am J Kidney Dis 1994; 24:737-752.
Bourcier T, et al. Sclerochoroidal calcification associated with Gitelman syndrome. Am J Ophthalmol 1999; 128: 767-768.
Cohen SY, Guyot-Sionnest M, Puech M. Choroidal neovascularization as a late complication of hyperparathyroidism. Am J Ophthalmol 1998; 126:320-322.
Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966; 79:231-235.
Shields JA. Sclerochoroidal calcification in calcium pyrophosphate dihydrate deposition disease. Arch Ophthalmol 1997; 115:1077-l079.
Simon DB, Lifton RP. The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes. Am J Physiol 1966; 271:F961-F966.
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