Article: Inherited forms of renal hypomagnesemia: an update.
Pediatric nephrology (Berlin, Germany)
2008 Volume 24, Issue 4, Page(s) 697–705
Abstract: ... Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been ... transporters been identified in these diseases. In this short review, I give an update on these hypomagnesemic ... following positional cloning strategies in affected families, have mutations in renal ion channels and ...
| Abstract | The kidney plays an important role in ion homeostasis in the human body. Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary hypocalcemia, autosomal dominant hypomagnesemia with hypocalciuria, and autosomal recessive hypomagnesemia. Only recently, following positional cloning strategies in affected families, have mutations in renal ion channels and transporters been identified in these diseases. In this short review, I give an update on these hypomagnesemic disorders. Elucidation of the genetic etiology and, for most of these disorders, also the underlying pathophysiology of the disease, has greatly increased our understanding of the normal physiology of renal magnesium handling. This is yet another example of the importance of studying rare disorders in order to unravel physiological and pathophysiological processes in the human body. |
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| MeSH term(s) | Gitelman Syndrome/genetics ; Gitelman Syndrome/physiopathology ; Humans ; Hypocalcemia/genetics ; Hypocalcemia/physiopathology ; Kidney/metabolism ; Kidney Tubules/metabolism ; Magnesium/blood ; Magnesium Deficiency/genetics ; Magnesium Deficiency/physiopathology ; Metal Metabolism, Inborn Errors/genetics ; Metal Metabolism, Inborn Errors/physiopathology ; TRPM Cation Channels/genetics | |||||
| Chemical Substances | TRPM Cation Channels ; TRPM6 protein, human ; Magnesium (I38ZP9992A) | |||||
| Language | English | |||||
| Publishing date | 2008-09-26 | |||||
| Publishing country | Germany | |||||
| Document type | Journal Article ; Review | |||||
| ZDB-ID | 631932-4 | |||||
| ISSN | 1432-198X ; 0931-041X | |||||
| ISSN (online) | 1432-198X | |||||
| ISSN | 0931-041X | |||||
| DOI | 10.1007/s00467-008-0968-x | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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