期刊
ACTA PAEDIATRICA
卷 103, 期 11, 页码 1117-1125出版社
WILEY-BLACKWELL
DOI: 10.1111/apa.12743
关键词
Calcium-sensing receptor; Hypocalcaemia; Neonatal; Paediatric; Seizures
类别
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. 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.
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