HSD17B4基因突变致D-双功能蛋白缺乏症

15d男性患儿,因反复抽搐14d入院.主要临床表现为难治性癫痫发作、反应差、喂养困难、四肢肌张力低、双侧听力受损,神经电生理表现为双侧脑干听觉诱发电位减弱及脑电图爆发-抑制图形,血清极长链脂肪酸提示二十六烷酸显著增高,基因检测提示HSD17B4基因c.101C＞T(p.Ala34Val),c.1448_1460del(p.Ala483Aspfs*37)复合杂合突变.该文报道1例HSD17B4基因突变所致D-双功能蛋白缺乏症,对该病流行病学、临床特征及诊疗进行归纳总结,重点关注与大田原综合征的鉴别,为该病早期诊断提供了参考依据....

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Published in:Zhongguo dang dai er ke za zhi 2021-10, Vol.23 (10), p.1058-1063
Main Authors: 杨树梅, 曹传顶, 丁颖, 王铭杰, 岳少杰
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Language:chi ; eng
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Complicated Case Study
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container_start_page 1058
container_title Zhongguo dang dai er ke za zhi
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creator 杨树梅
曹传顶
丁颖
王铭杰
岳少杰
description 15d男性患儿,因反复抽搐14d入院.主要临床表现为难治性癫痫发作、反应差、喂养困难、四肢肌张力低、双侧听力受损,神经电生理表现为双侧脑干听觉诱发电位减弱及脑电图爆发-抑制图形,血清极长链脂肪酸提示二十六烷酸显著增高,基因检测提示HSD17B4基因c.101C＞T(p.Ala34Val),c.1448_1460del(p.Ala483Aspfs*37)复合杂合突变.该文报道1例HSD17B4基因突变所致D-双功能蛋白缺乏症,对该病流行病学、临床特征及诊疗进行归纳总结,重点关注与大田原综合征的鉴别,为该病早期诊断提供了参考依据.
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title HSD17B4基因突变致D-双功能蛋白缺乏症
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