Genetic renal disorders with hypomagnesemia and hypocalciuria

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...

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Bibliographic Details
Published inJournal 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
LanguageEnglish
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
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Summary: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 elucidated through positional candidate cloning approaches. The defective proteins involved in both diseases are located within the distal convoluted tubule (DCT), a segment of the nephron known to play an important role in active magnesium reabsorption in the nephron. The introduction outlines the magnesium handling in the body in general and, in particular, in the kidney, followed by a detailed discussion of Gitelman's syndrome and isolated renal magnesium wasting, including the clinical and biochemical symptoms, genetic aspects and pathophysiology.
ISSN:1121-8428