新生儿D-双功能蛋白缺乏症2例并文献复习

doi:10.3760/cma.j.cn113903-20221216-01034

科研成果详情

题名	新生儿D-双功能蛋白缺乏症2例并文献复习
其他题名	Neonatal D-bifunctional protein deficiency: a report of two cases and literature review
作者	柳艳丽; 陈思; 雷一慧; 杜林润; 麦菁芸
发表日期	2023-06-16
发表期刊	中华围产医学杂志影响因子和分区
语种	中文
原始文献类型	Periodical
关键词	过氧化物酶体多功能蛋白-2 蛋白质缺乏 DNA突变分析婴儿，新生
其他关键词	Peroxisomal multifunctional protein-2 ; Protein deficiency ; DNA mutational analysis ; Infant, newborn
摘要	目的:总结D-双功能蛋白缺乏症（D-bifunctional protein deficiency，DBPD）的临床特点及遗传学病因。方法:回顾性收集2020年8月和2020年11月温州医科大学附属第二医院新生儿科收治的2例DBPD新生儿的临床资料，分析其临床表现、辅助检查及遗传学结果。并以“D-双功能蛋白缺乏症”“ HSD17B4变异”作为检索词，检索中国知网、万方及维普数据库以“ HSD17B4”“D-bifunctional protein deficiency”为检索词检索、在线人类孟德尔遗传数据库、PubMed自建库至2022年11月的文献，收集2岁内发病的基因检测诊断的DBPD患儿的病例资料。总结DBPD患儿的临床特点及遗传学病因。采用描述性统计分析。结果:本院2例患儿均存在呼吸费力、肌张力低下、难治性癫痫、反应差、原始反射未引出及颅面部畸形。患儿1全外显子组测序发现 HSD17B4基因杂合剪接变异c.972+1GT和错义变异c.727TA（p.W243R），分别遗传自父亲和母亲；患儿2全外显子组测序发现 HSD17B4基因纯合剪接变异c.1333+4AG。均为致病性变异。检索文献纳入英文文献12篇，中文文献1篇，包括16个家系（19例患儿），加之本院2例共21例患儿（男8例、女13例），其中2个家系4例患儿父母为近亲结婚；21例患儿均有肌张力低下；20例伴癫痫发作，其中生后1～5 d 出现癫痫发作17例；12例伴有高额头、长人中、眼距宽和高腭弓等颅面部畸形。 HSD17B4基因复合杂合变异13例，纯合变异8例；共检测到26种 HSD17B4基因变异，其中错义变异16种、剪接变异7种、无义变异2种、移码变异1种。结论:新生儿出现肌张力低下、难治性癫痫，伴有外观畸形时，应考虑到DBPD，并完善基因检测。
其他摘要	Objective:To summarize the clinical characteristics and genetic etiology of infants with D-bifunctional protein deficiency (DBPD).Methods:This study involved two DBPD newborns who were hospitalized in the Second Affiliated Hospital of Wenzhou Medical University in August 2020 and November 2020. Clinical data including manifestations, radiographic findings and genetic testing results were retrospectively analyzed. Relevant articles up to November 2022 were retrieved from various databases including CNKI, Wanfang, CQVIP, Online Mendelian Inheritance in Man and PubMed using the terms of "D-bifunctional protein deficiency" and " HSD17B4" in both Chinese and English. Clinical data of the cases diagnosed with DBPD by genetic testing within two years of age were collected. Clinical features and genetic etiology of the children with DBPD were summarized by descriptive statistical analysis. Results:Both neonates in this report presented with dyspnea, hypotonia, intractable epilepsy, poor response, absence of primitive reflexes, and craniofacial malformation. Whole-exome sequencing revealed that patient 1 carried heterozygous variations of c.972+1GT and c.727TA (p.W243R) in the HSD17B4 gene, which were inherited from his father and mother, respectively. A homozygous variation of c.1333+4AG in the HSD17B4 gene was identified in patient 2. All these mutations were pathogenic. Thirteen papers (12 in English and one in Chinese) involving 19 patients from 16 pedigrees were retrieved. Altogether 21 patients (eight males and 13 females) were included, and among them, four from two pedigrees were born to consanguineous parents. There were 21 patients with hypotonia, 20 with epileptic seizures (17 presenting with epileptic seizures within 5 d after birth) and 12 with craniofacial deformities including high forehead, long philtrum and high palatine arches. Genetic tests showed that 13 patients carried compound heterozygous variations in the HSD17B4 gene and eight patients had homozygous variations. Twenty-six variations in the HSD17B4 gene were detected, including 16 missense mutations, seven splicing mutations, two nonsense mutations and one frameshift mutation. Conclusion:DBPD should be considered and genetic tests should be given when newborns have dystonia and intractable epilepsy complicated by appearance deformity.
ISSN	1007-9408
卷号	26 期号:6 页码:496-501
DOI	10.3760/cma.j.cn113903-20221216-01034
页数	6
收录类别	万方 ; SCOPUS ; 维普 ; CSCD ; ISTIC ; ISTIC ; 北大核心
URL	查看原文
SCOPUSEID	2-s2.0-85166781827
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/181931
专题	附属第二医院_新生儿科
作者单位	温州医科大学附属第二医院新生儿科，温州　325027
第一作者单位	附属第二医院_新生儿科
第一作者的第一单位	附属第二医院_新生儿科
推荐引用方式 GB/T 7714	柳艳丽,陈思,雷一慧,等. 新生儿D-双功能蛋白缺乏症2例并文献复习[J]. 中华围产医学杂志,2023,26(6):496-501.
APA	柳艳丽, 陈思, 雷一慧, 杜林润, & 麦菁芸. (2023). 新生儿D-双功能蛋白缺乏症2例并文献复习. 中华围产医学杂志, 26(6), 496-501.
MLA	柳艳丽,et al."新生儿D-双功能蛋白缺乏症2例并文献复习".中华围产医学杂志 26.6(2023):496-501.