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[Idiopathic infantile hypercalcemia]
- Source :
- Zhonghua er ke za zhi = Chinese journal of pediatrics. 57(5)
- Publication Year :
- 2019
-
Abstract
- 1例主诉为"体重不增2个月余，发现血钙过高半个月"的患儿就诊于苏州大学附属儿童医院内分泌遗传代谢科，患儿血浆游离钙1.57 mmol/L，总钙3.3 mmol/L，磷0.99 mmol/L，B超提示双肾钙盐沉积，全外显子基因测序发现，患儿存在SLC34A1基因c.581GA（p.G194D）和c.627delC（p.D209Efs*77）复合杂合变异，诊断为特发性婴儿高钙血症。国内尚无SLC34A1基因变异患者报道。.
Details
- ISSN :
- 05781310
- Volume :
- 57
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Zhonghua er ke za zhi = Chinese journal of pediatrics
- Accession number :
- edsair.pmid..........7338b87783f1d56b4e4f2a7b4f2ae03c