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

Acta Paediatr. 2014 Nov;103(11):1117-25. doi: 10.1111/apa.12743. Epub 2014 Aug 24.

Abstract

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.

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.

Keywords: Calcium-sensing receptor; Hypocalcaemia; Neonatal; Paediatric; Seizures.

Publication types

  • Case Reports
  • Review

MeSH terms

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

Substances

  • Receptors, Calcium-Sensing
  • Calcium

Supplementary concepts

  • Hypercalciuric Hypocalcemia, Familial