Hypocalcemia and chromosome 22q11 microdeletion.
This review of the diagnosis, causes, prevention and treatment of hypocalcemia emphasizes the high incidence of this biological alteration in patients with 22q11 microdeletion. It also points out its large spectrum of presentation, from cases where the most prominent feature of the syndrome is hypocalcemia with hypoparathyroidism, to cases with asymptomatic, latent or late-onset hypocalcemia. Hence, the advice to perform genetic analysis of the 22q11 region in patients with late-onset or recurrent hypoparathyroidism and to systematically include serum calcium in the survey of patients with known 22q11 microdeletion, especially during infancy, adolescence and pregnancy and especially during cardiac surgery or sepsis.
Garabédian
M
M
Unité CNRS UPR 1524, Hôpital Saint Vincent de Paul, Paris, France.
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D015994:Incidence; D007231:Infant, Newborn