Format

Send to

Choose Destination
Acta Paediatr. 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.

Author information

1
Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark.
2
Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

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

PMID:
25039540
DOI:
10.1111/apa.12743
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center