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婴儿系统性炎呈现为婴儿时的伪麻:对六例病例的研究

Vykuntaraju K Gowda¹, Sahana M Srinivas², Priya Gupta¹

¹Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

Journal of pediatric genetics

|August 14, 2023

概括

婴儿系统性阴症是一种罕见的遗传疾病,由ANTXR2基因突变引起,表现为痛苦的运动和皮肤病变. 早期诊断有助于避免不必要的测试,并使产前诊断成为可能.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
皮肤病学皮肤病学

背景情况:

婴儿系统性阴病 (ISH) 是一种罕见的致命遗传疾病.
它源于毛细血管形态发生基因-2 (CMG2) /人类炭毒素-2 (ANTXR2) 基因的突变.
它的特点是状细胞的增殖和氨酸物质的沉积.

研究的目的:

报告一系列被诊断患有ISH的婴儿.
突出临床表现和诊断发现.
强调基因分析对于诊断和咨询的重要性.

主要方法:

在2015年1月至2020年12月期间被诊断患有ISH的婴儿的回顾性图表审查.
临床数据收集包括症状,体检和实验室测试.
皮肤活检和遗传研究 (ANTXR2基因测序).

主要成果:

呈现的平均年龄为9.4个月,男性与女性的比例为 1:5.
常见的症状包括疼痛的四肢运动,关节硬,牙加厚和皮肤病变.
皮肤活检显示了化原蛋白,遗传研究证实了ANTXR2的致病变体.

结论:

在患有肢体运动疼痛的婴儿中,应考虑ISH.
诊断避免了不必要的调查,并有助于预后.
遗传发现为受影响家庭的产前诊断提供了便利.

关键词:

这种基因是ANTXR2基因.婴儿系统性阴症共同的合同是共同的合同.伪麻是一种伪麻.

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