Hereditary hypomagnesemia
10.3760/cma.j.issn.1673-4408.2010.05.027
- VernacularTitle:遗传相关性低镁血症
- Author:
Lu YANG
- Publication Type:Journal Article
- Keywords:
Magnesium;
Hypomagnesemia;
Magnesium deficiency;
Metal metabolism,inborn errors
- From:
International Journal of Pediatrics
2010;37(5):524-526,530
- CountryChina
- Language:Chinese
-
Abstract:
Magnesium participates in many fundamental metabolic processes and plays important roles in maintaining normal body function. Magnesium homeostasis is regulated by a fine balance between gastrointestinal absorption and renal excretion. Several hereditary disorders characterized by hypomagnesemia have been described since 1960s, including familial hypomagnesemia with hypercalciuria and nephrocalcinosis, autosomal dominant hypomagnesemia with hypocalciuria, hypomagnesemia with secondary hypocalcemia, autosomal dominant hypocalcemia and etc. Recent advances in molecular genetics and protein functions contribute to more understanding of magnesium transport. We will review clinical aspects of hereditary disorders of hypomagnesemia and summarize genetic findings related to these disorders.
