[Congenital hypomagnesemia].
MORE PRECISE IDENTIFICATION: The progress in molecular genetics has led to better understanding of primitive magnesium deficiency. Transporters of this cation have been identified in the intestines and kidneys. The majority of congential hypomanesemia phenotypes have been correlated with a defect in magnesium transport. The primary deficiency of intestinal absorption of magnesium is responsible for hypomagnesemia and subsequent hypocalcemia. DEPENDING ON THE MECHANISM: Magnesium absorption defects in Henle's loop induce hypomagnesemia with hypercalciuria and nephrocalcinosis, autosomal dominant hypocalcemia or Bartter syndrome. In isolated dominant hypomagnesemia and Gitelman syndrome, an abnormality in the distal convoluted tubule explains the primitive hypomagnesemia, through renal leaking. Conversely, the mechanisms of recessive isolated hypomagnesemia remains unknown. ORIENTING GENETIC DIAGNOSIS: In a context of primitive hypomagnesemia, the clinical and biological presentation will orient genetic research leading to correct diagnosis. However, there are many border-line phenotypes and the pheno-genotype correlation is still imperfect.
Montaigne
David
D
Service d'endocrinologie et métabolisme, Centre hospitalo-universitaire, Lille (59).
Perimenis
Pierrette
P
Douillard
Claire
C
Wemeau
Jean-Louis
JL
Vantyghem
Marie-Christine
MC
D000042:Absorption; D003937:Diagnosis, Differential; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008274:Magnesium / Q000493:pharmacokinetics*; D008275:Magnesium Deficiency / Q000151:congenital* / Q000503:physiopathology*; D010641:Phenotype
D008274:Magnesium