新生儿低磷酸酶血症1例并文献复习

杨冬, 郭金珍, 何阿玲, 李占魁

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (12) : 1388-1391.

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中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (12) : 1388-1391. DOI: 10.11852/zgetbjzz2018-1638
个案报道

新生儿低磷酸酶血症1例并文献复习

  • 杨冬, 郭金珍, 何阿玲, 李占魁
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摘要

低磷酸酶血症(HPP)是一种罕见的由ALPL基因突变引起的遗传疾病。以骨和(或)牙齿矿化障碍,伴有血清碱性磷酸酶活性降低为特征。病情轻重差异大,轻型可存活至成年,而疾病重型者宫内即可出现骨骼病变,多于婴儿期死亡。本文结合西北妇女儿童医院1例围产期致死型新生儿低磷酸酶血症总结了该病的临床分型及表现、实验室检查、影像学特征、ALPL相关基因检测以及目前治疗进展。以更好的认识此疾病,早期诊断,早期干预及治疗。

关键词

低磷酸酶血症 / 矿化障碍 / 血清碱性磷酸酶 / ALPL基因

引用本文

导出引用
杨冬, 郭金珍, 何阿玲, 李占魁. 新生儿低磷酸酶血症1例并文献复习[J]. 中国儿童保健杂志. 2019, 27(12): 1388-1391 https://doi.org/10.11852/zgetbjzz2018-1638
中图分类号: :R722.6   

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