线粒体3- 羟基-3- 甲基戊二酰辅酶A 合成酶缺乏症1 例分析及文献回顾

doi:10.3969/j.issn.1000-3606.2019.11.015

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (11): 858-.doi: 10.3969/j.issn.1000-3606.2019.11.015

线粒体3- 羟基-3- 甲基戊二酰辅酶A 合成酶缺乏症1 例分析及文献回顾

王美娟，宫幼喆，马昕，朱丹,　钟雪梅

首都儿科研究所附属儿童医院(北京 100020)

出版日期:2019-11-15 发布日期:2020-02-03
通讯作者: 钟雪梅电子信箱：zhongxuemei5566@163.com
作者简介:　目的　探讨罕见的严重先天性中性粒细胞减少症的临床及基因突变特点。方法　回顾分析2例经基因检测确诊为严重先天性中性粒细胞减少患儿的临床资料，并复习相关文献。结果　男女各1例，均有反复感染病史。男孩， 1 岁9个月，中性粒细胞绝对计数（ANC）最低0.17×109/L，伴有发育异常，全外显子基因检测示VPS13B基因杂合突变， Exon47，c.8531delG（p.Ser2844fs）移码突变，来自父亲；Intron 38（c.6940+1G>T）内含子突变，来自母亲，结合临床确诊 Cohen综合征。女孩， 2岁，ANC长期波动在0.4×109/L左右，全外显子基因检测示CSF3R基因杂合突变，Intron3，c.64+5G>A 内含子突变，来自父亲；Exon7，c.690delC（p.Met231Cysfs*32）移码突变，来自母亲，结合临床考虑为严重先天性粒细胞减少症7型（SCN7）。女性患儿对粒细胞集落刺激因子（G-GSF）治疗无效，改用粒细胞巨噬细胞集落刺激因子（GM-CSF）有效。结论　严重先天性中性粒细胞减少可导致严重或反复感染，为某类综合征的特征表现，部分可向骨髓增生异常综合征或急性髓细胞性白血病转变，需长期随访及治疗，基因检测有助诊断。
基金资助:
北京市医院管理中心消化内科学科协同发展中心专项经费资助（No.XXZ0505）

Clinical features of a Chinese infant with mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency and review of the literature

　WANG Meijuan , GONG Youzhe， MA Xin，ZHU Dan, ZHONG Xuemei

Department of Gastroentology, Hospital of Capital Institute of Pediatrics, Beijing 100020, China

Online:2019-11-15 Published:2020-02-03

摘要/Abstract

摘要： 目的　探讨线粒体3-羟基-3甲基戊二酰辅酶A合成酶缺乏症（HMCSD）的临床及遗传学特征。方法　回顾分析1例HMCSD患儿的临床资料，并复习相关文献。结果　女性患儿， 9个月余，先后因呕吐、抽搐及发热、咳嗽就诊。血生化检查示低血糖、代谢性酸中毒、肝功能异常、凝血功能异常，尿筛查示双羧酸尿。基因检测发现HMGCS2基因存在6 号外显子c.1187+1G>C和3号外显子c.648G>T 复合杂合突变，确诊为HMCSD。此突变未见报道。患儿经积极抗感染、纠正代谢性酸中毒、维持血糖稳定及补充左卡尼汀等治疗后好转。随访半年智力运动发育正常。结论　HMCSD临床表现多样，基因检测可明确诊断，早期识别、早期诊治有助于改善预后。

关键词: 线粒体3-羟基-3甲基戊二酰辅酶A合成酶缺乏症；　HMGCS2基因；　低血糖；　酮体

Abstract: 　Objective　To explore the clinical features and genetic characteristics of mitochondrial 3-hydroxy-3methylglutaryl CoA synthase deficiency（HMGSD） . Method　The clinical data of mitochondrial HMGSD in a child was retrospectively analyzed, and related literature was reviewed. Result　A 9-month-old infant was admitted to the hospital with vomiting and convulsion for the first time and fever and cough for the second time. Laboratory tests showed hypoglycemia, acidosis, abnormal liver function and coagulation dysfunction. Urine organic acid analysis indicated dicarboxylic aciduria. Genetic testing showed that there were compound heterozygous mutations in HMGCS2 gene: c.1187+1G>C in exon 6 and c.648G>T in exon 3, which had not been reported before. Progressive clinical and biochemical improvement were observed after acidosis and hypoglycemia being corrected, anti-infectious and L-carnitine treatment. The child developed normally after a follow-up of half a year. Conclusion　Clinical manifestations of mitochondrial HMGSD in children are complex and varied. Definitive diagnosis can be achieved by gene analysis. Prompt diagnosis and early treatment are essential.

Key words: mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency;　HMGCS2 gene;　hypoglycemia; ketone bodies

王美娟，宫幼喆，马昕，等. 线粒体3- 羟基-3- 甲基戊二酰辅酶A 合成酶缺乏症1 例分析及文献回顾[J]. 临床儿科杂志, 2019, 37(11): 858-.

WANG Meijuan, GONG Youzhe, MA Xin, et al. Clinical features of a Chinese infant with mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency and review of the literature[J]. Journal of Clinical Pediatrics, 2019, 37(11): 858-.

线粒体3- 羟基-3- 甲基戊二酰辅酶A 合成酶缺乏症1 例分析及文献回顾

Clinical features of a Chinese infant with mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency and review of the literature

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