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

作者：Thim Signe B^*; Birkebaek Niels H; Nissen Peter H; Host Christian

来源：Acta Paediatrica, 2014, 103(11): 1117-1125.

DOI：10.1111/apa.12743

• Calcium-sensing receptor
• Hypocalcaemia
• Neonatal
• Paediatric
• Seizures

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. %26lt;br%26gt;ConclusionWe 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.

• 出版日期2014-11