Tags

Type your tag names separated by a space and hit enter

Inherited forms of renal hypomagnesemia: an update.
Pediatr Nephrol. 2009 Apr; 24(4):697-705.PN

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.

Authors+Show Affiliations

Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. n.knoers@antrg.umcn.nl

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18818955

Citation

Knoers, Nine V A M.. "Inherited Forms of Renal Hypomagnesemia: an Update." Pediatric Nephrology (Berlin, Germany), vol. 24, no. 4, 2009, pp. 697-705.
Knoers NV. Inherited forms of renal hypomagnesemia: an update. Pediatr Nephrol. 2009;24(4):697-705.
Knoers, N. V. (2009). Inherited forms of renal hypomagnesemia: an update. Pediatric Nephrology (Berlin, Germany), 24(4), 697-705. https://doi.org/10.1007/s00467-008-0968-x
Knoers NV. Inherited Forms of Renal Hypomagnesemia: an Update. Pediatr Nephrol. 2009;24(4):697-705. PubMed PMID: 18818955.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inherited forms of renal hypomagnesemia: an update. A1 - Knoers,Nine V A M, Y1 - 2008/09/26/ PY - 2008/06/11/received PY - 2008/07/23/accepted PY - 2008/07/22/revised PY - 2008/9/27/pubmed PY - 2009/6/6/medline PY - 2008/9/27/entrez SP - 697 EP - 705 JF - Pediatric nephrology (Berlin, Germany) JO - Pediatr. Nephrol. VL - 24 IS - 4 N2 - 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. SN - 0931-041X UR - https://wwww.unboundmedicine.com/medline/citation/18818955/Inherited_forms_of_renal_hypomagnesemia:_an_update_ L2 - https://dx.doi.org/10.1007/s00467-008-0968-x DB - PRIME DP - Unbound Medicine ER -