Genetic renal disorders with hypomagnesemia and hypocalciuria

• Published in: Journal of nephrology Vol. 16; no. 2; p. 293
• Main Authors: Knoers, Nine V A M, de Jong, Joke C, Meij, Iwan C, Van Den Heuvel, Lambert P W J, Bindels, Rene J M
• Format: Journal Article
• Language: English
• Published: Italy 01.03.2003
• Subjects: Bartter Syndrome - genetics; Bartter Syndrome - metabolism; Biological Transport; Calcium - urine; Calcium Metabolism Disorders - epidemiology; Calcium Metabolism Disorders - genetics; Female; Humans; Kidney Diseases - epidemiology; Kidney Diseases - genetics; Kidney Tubules, Distal - metabolism; Magnesium - blood; Male; Prevalence; Prognosis; Risk Assessment; Syndrome

The combination of hypomagnesemia and hypocalciuria is the phenotypic signature of two distinct genetic renal tubular transport disorders: Gitelman's syndrome and autosomal dominant isolated renal magnesium wasting. In the past 5 years the genetic defects underlying these disorders have been el...