Article
Genetic heterogeneity in familial renal magnesium wasting.
The Journal of clinical endocrinology and metabolism - 1 Feb 2002
Kantorovich Vitaly, Adams John S, Gaines Jade E, Guo Xiuqing, Pandian Murugan R, Cohn Daniel H, Rude Robert K
Abstract excerpt
Isolated hereditary renal magnesium (Mg) wasting may result from mutations in the renal tubular epithelial cell tight junction protein paracellin-1 gene or the tubular Na(+),K(+)-ATPase gamma-subunit gene FXYD2. The FXYD2 gene mutation was discovered in two Dutch families as an autosomal dominant disorder. It is characterized by isolated renal Mg wasting with resultant symptomatic hypomagnesemia. The defective...
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