复合型甘油激酶缺乏症一例临床资料及基因变异分析

doi:10.12114/j.issn.1007-9572.2020.00.640

中国全科医学 ›› 2021, Vol. 24 ›› Issue (9): 1144-1147.DOI: 10.12114/j.issn.1007-9572.2020.00.640

复合型甘油激酶缺乏症一例临床资料及基因变异分析

崔清洋，桑桂梅，曹银利，尚云，唐成和*

453100河南省卫辉市，新乡医学院第一附属医院儿科
*通信作者：唐成和，主任医师；E-mail：tch8275@163.com

出版日期:2021-03-20 发布日期:2021-03-20

Clinical and Gene Variation Analyses of a Case of Complex Glycerol Kinase Deficiency　

CUI Qingyang，SANG Guimei，CAO Yinli，SHANG Yun，TANG Chenghe*

Department of Pediatrics，First Affiliated Hospital of Xinxiang Medical University，Weihui 453100，China
*Corresponding author：TANG Chenghe，Chief physician；E-mail：tch8275@163.com

Published:2021-03-20 Online:2021-03-20

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摘要/Abstract

摘要： 复合型甘油激酶缺乏症是一种由Xp21染色体部分缺失引起的相邻基因综合征，主要表现为甘油激酶缺乏、肾上腺皮质功能低下、杜氏肌营养不良和智力发育落后，及时行基因检测可早期诊断。本文报告了1例复合型甘油激酶缺乏症新生儿患儿，其主要表现为肾上腺皮质功能减退（低钠血症和高钾血症）、高肌酸激酶血症和高甘油尿症，经家系全外显子及CNV Seq检测最终确诊。

关键词: 复合型甘油激酶缺乏症, 高肌酸激酶血症, 高甘油尿症, Xp21

Abstract: Complex glycerol kinase deficiency is a kind of contiguous gene syndrome caused by partial deletion of Xp21 chromosome，which is mainly manifested as glycerol kinase deficiency，adrenal cortical dysfunction，Duchenne muscular dystrophy and mental retardation.Timely gene detection is helpful for early diagnosis.This paper reported a neonatal case of complex glycerol kinase deficiency with manifestations mainly consist of adrenocortical hypofunction （hyponatremia and hyperkalemia），elevated creatine kinase and urine glycerol levels.Whole exome sequencing and CNV Seq tests were performed to confirm the diagnosis.

Key words: Complex glycerol kinase deficiency, HyperCKemias, Hyperglycyluria, Xp21

崔清洋,桑桂梅,曹银利,等. 复合型甘油激酶缺乏症一例临床资料及基因变异分析[J]. 中国全科医学, 2021, 24(9): 1144-1147. DOI: 10.12114/j.issn.1007-9572.2020.00.640.
CUI Qingyang,SANG Guimei,CAO Yinli, et al. Clinical and Gene Variation Analyses of a Case of Complex Glycerol Kinase Deficiency　[J]. Chinese General Practice, 2021, 24(9): 1144-1147. DOI: 10.12114/j.issn.1007-9572.2020.00.640.

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复合型甘油激酶缺乏症一例临床资料及基因变异分析

Clinical and Gene Variation Analyses of a Case of Complex Glycerol Kinase Deficiency

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