[Contribution of genetic testing after diagnosis of hypocalcemia].
Serum calcium is a fine-tuned biological value. In recent years, fundamental research and study of molecular anomalies causing certain hereditary diseases of phosphocalcium metabolism have greatly contributed to our knowledge of the factors involved in this regulation, from the embryogenesis of the parathyroid glands to the assay value of serum calcium. Targeted research on these genetic anomalies would be useful not only for the clinician, but also for the patient, contributing to the etiological search, patient follow-up, and possibly to antenatal diagnosis. The main genetic anomalies identified to date are: CaSR, GNAS, AIRE, VDR, mitochondrial DNA, 22q11 deletion.
Lienhardt-Roussie
A
A
Département de Pédiatrie, CHU Dupyutren, 87042 Limoges. anne.lienhardt@chu-limoges.fr
D002118:Calcium / Q000378:metabolism; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics*; D010758:Phosphorus / Q000378:metabolism; D017384:Sequence Deletion
D004272:DNA, Mitochondrial; D010758:Phosphorus; D002118:Calcium