Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Authors :: Thim SB
Birkebaek NH
Nissen PH
Høst C
Source :: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2014 Nov; Vol. 103 (11), pp. 1117-25. Date of Electronic Publication: 2014 Aug 24.
Publication Year :: 2014
Abstract: Unlabelled: Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium-sensing receptor (CASR) gene, but detailed information on the paediatric phenotype is limited. The current paper presents a case of severe ADH and systematically reviews the literature on ADH in children.<br />Conclusion: We found that the severity of clinical neurological symptoms was inversely related to serum calcium levels and a high prevalence of renal calcifications and/or basal ganglia calcifications in children with ADH.<br /> (©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Subjects :: Calcium therapeutic use
Female
Genetic Variation
Humans
Hypercalciuria diagnosis
Hypercalciuria drug therapy
Hypocalcemia diagnosis
Hypocalcemia drug therapy
Hypoparathyroidism diagnosis
Hypoparathyroidism drug therapy
Hypoparathyroidism genetics
Infant
Hypercalciuria genetics
Hypocalcemia genetics
Hypoparathyroidism congenital
Receptors, Calcium-Sensing genetics
Receptors, Calcium-Sensing physiology

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