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01-01-2004 | Review

Genetics of hereditary disorders of magnesium homeostasis

Authors: Karl P. Schlingmann, Martin Konrad, Hannsjörg W. Seyberth

Published in: Pediatric Nephrology | Issue 1/2004

Abstract

Magnesium plays an essential role in many biochemical and physiological processes. Homeostasis of magnesium is tightly regulated and depends on the balance between intestinal absorption and renal excretion. During the last decades, various hereditary disorders of magnesium handling have been clinically characterized and genetic studies in affected individuals have led to the identification of some molecular components of cellular magnesium transport. In addition to these hereditary forms of magnesium deficiency, recent studies have revealed a high prevalence of latent hypomagnesemia in the general population. This finding is of special interest in view of the association between hypomagnesemia and common chronic diseases such as diabetes, coronary heart disease, hypertension, and asthma. However, valuable methods for the diagnosis of body and tissue magnesium deficiency are still lacking. This review focuses on clinical and genetic aspects of hereditary disorders of magnesium homeostasis. We will review primary defects of epithelial magnesium transport, disorders associated with defects in Ca²⁺/ Mg²⁺ sensing, as well as diseases characterized by renal salt wasting and hypokalemic alkalosis, with special emphasis on disturbed magnesium homeostasis.

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Title: Genetics of hereditary disorders of magnesium homeostasis
Authors: Karl P. Schlingmann
Martin Konrad
Hannsjörg W. Seyberth
Publication date: 01-01-2004
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 1/2004
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-003-1293-z

Keynote webinar | Spotlight on medication adherence

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Genetics of hereditary disorders of magnesium homeostasis

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Keynote webinar | Spotlight on medication adherence

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