首页> 外文期刊>Acta paediatrica: International journal of paediatrics >Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review
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Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review

机译:激活calcium-sensing受体基因变异婴儿低钙血症的孩子:一个案例研究和文献综述

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摘要

Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium-sensing receptor (CAS/?) 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.
机译:常染色体显性低钙血症(ADH)引起通过激活calcium-sensing变体受体(CAS / ?)基因,但详细的信息在儿科表型是有限的。当前提出的严重的抗利尿激素和系统地综述了文学在抗利尿激素的孩子。临床神经症状是反向的相关的血清钙含量和高患病率肾钙化物质和/或基底ganglia钙化与抗利尿激素在儿童。

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