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

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

Signe B Thim  1 , Niels H Birkebaek  1 , Peter H Nissen  2 , Christian Høst  1
Affiliations
Review

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

Signe B Thim et al. Acta Paediatr. 2014 Nov.

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.

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