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Article(id=1240929925595721731, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1240929920461886112, articleNumber=null, orderNo=null, doi=10.20043/j.cnki.MPM.202312171, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=null, receivedDate=1702396800000, receivedDateStr=2023-12-13, revisedDate=null, revisedDateStr=null, acceptedDate=null, acceptedDateStr=null, onlineDate=1773790349625, onlineDateStr=2026-03-18, pubDate=1717948800000, pubDateStr=2024-06-10, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1773790349625, onlineIssueDateStr=2026-03-18, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1773790349625, creator=13701087609, updateTime=1773790349625, updator=13701087609, issue=Issue{id=1240929920461886112, tenantId=1146029695717560320, journalId=1227665162245664772, year='2024', volume='51', issue='11', pageStart='1921', pageEnd='2112', issueExtLink='null', onlineDate='null', pubDate='null', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=0, createTime=1773790348400, creator=13701087609, updateTime=1773827281389, updator=13701087609, preIssue=null, nextIssue=null, ext={EN=IssueExt(id=1241084828704109275, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1240929920461886112, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1241084828704109276, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1240929920461886112, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null}, startPage=1982, endPage=1987, ext={EN=ArticleExt(id=1240929926015152163, articleId=1240929925595721731, tenantId=1146029695717560320, journalId=1227665162245664772, language=EN, title=Screening results of neonatal genetic metabolic diseases and analysis of gene mutation in Haikou, columnId=1228016568949474136, journalTitle=Modern Preventive Medicine, columnName=Child and Adolescent Health, Maternal and Child Health, runingTitle=null, highlight=null, articleAbstract=

Objective To analyze the results of genetic metabolic disease screening and gene mutation characteristics in newborns in Haikou, Hainan. Methods A retrospective analysis was conducted on 185 660 newborns born at the Haikou Maternal and Child Health Hospital from March 2017 to March 2021 who underwent genetic metabolic disease screening. All newborns underwent tandem mass spectrometry screening for genetic metabolic diseases within 7 days after birth. The positivity rate of genetic metabolic disease screening in newborns was statistically analyzed, and the specific gene mutation characteristics of the metabolic diseases were investigated. Results Among 185 660 newborns in Haikou, 88 were diagnosed with genetic metabolic diseases, with a total prevalence rate of 1 in 2 110 (47.40 per 100 000). Among the 88 cases, the prevalence rates of organic acidemia, amino acid metabolism disorders, and fatty acid oxidation disorders were 1/3 640, 1/10 921, and 1/9 283, respectively, with methylmalonic acidemia, medium-chain acyl-CoA dehydrogenase deficiency, and citrin deficiency ranking the top three.Genetic testing revealed that in 42 cases of methylmalonic acidemia, MUT and MMACHC mutation genes were detected, with the c.609G>A mutation in the MMACHC gene being the most common（37.97%）. The ACADM mutation genes in 15 cases of medium-chain acyl-CoA dehydrogenase deficiency were mainly detected at c.387+1delG (25.00%), c.449_452delCTGA(16.67%), and c.1076C>T (16.67%). The SLC25A13 mutations in 8 cases of citrin deficiency were mainly detected at c.154C>T(37.50%) and c.1638_1660dup (25.00%). Other detected mutation genes in genetic metabolic diseases mostly had 2 or 1 mutation sites. During treatment and follow-up, 49 children were normal (55.68%), 36 children experienced developmental delays(40.90%), and 3 children died (3.41%). Conclusion Haikou, Hainan has a certain incidence of genetic metabolic diseases in newborns, with medium-chain acyl-CoA dehydrogenase deficiency, methylmalonic acidemia, and citrin deficiency having the highest prevalence. These diseases exhibit specific characteristics in mutation sites.

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目的 分析海南省海口市新生儿遗传代谢病筛查结果及基因突变特点。方法 回顾性分析2017年3月—2021年3月在海口市妇幼保健院出生并予以相应的遗传代谢病筛查的185 660例新生儿临床一般资料。所有新生儿均于出生后7 d内采用串联质谱技术对遗传代谢病筛查，随后对新生儿的遗传代谢病筛查具体的阳性率予以统计，分析遗传代谢病具体的发病类型基因突变特点。结果 185 660例新生儿最终确诊遗传代谢病88例，总患病率为1/2 110（47.40/10万）。88例新生儿遗传代谢病中，有机酸血症、氨基酸代谢病、脂肪酸氧化障碍患病率分别1/3 640、1/10 921、1/9 283，其中甲基丙二酸血症、中链酰基辅酶A脱氢酶缺乏症、希特林蛋白缺乏症患病率占前三位。基因检测显示，42例甲基丙二酸血症共检出MUT、MMACHC突变基因，MMACHC突变基因中被检出的突变位点以c.609G>A最常见，占37.97%。15例中链酰基辅酶A脱氢酶缺乏症检出的ACADM突变基因以c.387+1delG（25.00%）、c.449_452 delCTGA（16.67%）、c.1076C>T（16.67%）突变位点为主；8例希特林缺乏症检出的SLC25A13突变基因以c.154C>T（37.50%）、c.1638_1660dup（25.00%）突变位点为主；其他遗传代谢病检出的突变基因多为2种或1种突变位点。治疗随访中，49例患儿正常，占55.68%；36例患儿发育迟缓，占40.90%；3例患儿死亡，占3.41%。结论 海南省海口市存在一定的新生儿遗传代谢病患病率，同时中链酰基辅酶A脱氢酶缺乏症、甲基丙二酸血症、希特林蛋白缺乏症患病率最高，并且其在突变位点上有自己的特点。

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韩燕媚，E-mail:
, copyrightStatement=本刊刊出的所有文章不代表中华预防医学会和本刊编委会的观点，除非特别声明。, copyrightOwner=中华预防医学会和四川大学华西公共卫生学院, extLink=null, articleAbsUrl=null, sourceXml=nOeD16f7biJJVFyxdd0U7g==, magXml=qbC9dLm3i5X2DAa3iJyvAA==, pdfUrl=null, pdf=62PxrLk9RD0e/tC7aqwBEg==, pdfFileSize=605958, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=5rLYrkmLf4+mmChM4poYcg==, mapNumber=null, authorCompany=null, fund=null, authors=

韩燕媚（1980—），女，本科，副主任医师，研究方向：医学遗传

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韩燕媚（1980—），女，本科，副主任医师，研究方向：医学遗传

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韩燕媚（1980—），女，本科，副主任医师，研究方向：医学遗传

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International Journal of Laboratory Medicine, 2020, 41(S2): 190-192., articleTitle=Analysis of tandem mass spectrometry results of neonatal inherited metabolic diseases in Hohhot region, refAbstract=null), Reference(id=1240929935536222903, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, doi=null, pmid=null, pmcid=null, year=2021, volume=24, issue=2, pageStart=85, pageEnd=88, url=null, language=null, rfNumber=[19], rfOrder=33, authorNames=应艳琴, 罗小平, journalName=中华围产医学杂志, refType=null, unstructuredReference=应艳琴， 罗小平.新生儿遗传代谢病筛查与基因诊断的现状与展望[J].中华围产医学杂志，2021，24（2）：85-88., articleTitle=新生儿遗传代谢病筛查与基因诊断的现状与展望, refAbstract=null), Reference(id=1240929935653663422, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, doi=null, pmid=null, pmcid=null, year=2021, volume=24, issue=2, pageStart=85, pageEnd=88, url=null, language=null, rfNumber=[19], rfOrder=34, authorNames=Ying YQ, Luo XP, journalName=Chinese Journal of Perinatal Medicine, refType=null, unstructuredReference=Ying YQ, Luo XP. Current status and prospect of screening and gene diagnosis of inherited metabolic diseases in neonates[J]. Chinese Journal of Perinatal Medicine, 2021, 24(2): 85-88., articleTitle=Current status and prospect of screening and gene diagnosis of inherited metabolic diseases in neonates, refAbstract=null), Reference(id=1240929935741743807, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, doi=null, pmid=null, pmcid=null, year=2022, volume=34, issue=8, pageStart=760, pageEnd=764, url=null, language=null, rfNumber=[20], rfOrder=35, authorNames=杨茹莱, 沈亚平, 陈迟, journalName=预防医学, refType=null, unstructuredReference=杨茹莱，沈亚平，陈迟，等.2009-2021年浙江省新生儿遗传代谢病基因型分析[J].预防医学，2022，34（8）：760-764., articleTitle=2009-2021年浙江省新生儿遗传代谢病基因型分析, refAbstract=null), Reference(id=1240929935850795717, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, doi=null, pmid=null, pmcid=null, year=2022, volume=34, issue=8, pageStart=760, pageEnd=764, url=null, language=null, rfNumber=[20], rfOrder=36, authorNames=Yang RL, Shen YP, Chen C, journalName=Journal of Preventive Medicine, refType=null, unstructuredReference=Yang RL, Shen YP, Chen C, et al. Genotypes of neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021[J]. Journal of Preventive Medicine, 2022, 34(8): 760-764., articleTitle=Genotypes of neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021, refAbstract=null)], funds=[Fund(id=1240929931375473137, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, awardId=821MS0847, language=CN, fundingSource=海南省自然科学基金项目资助(821MS0847), fundOrder=null, country=null)], companyList=[AuthorCompany(id=1240929926740766818, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, xref=1., ext=[AuthorCompanyExt(id=1240929926786904170, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, companyId=1240929926740766818, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=*Department of Medical Genetics, Haikou Maternal and Child Health Hospital, Haikou, Hainan 570203, China), AuthorCompanyExt(id=1240929926791098474, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, companyId=1240929926740766818, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1.海口市妇幼保健院医学遗传科，海南 海口 570203)]), AuthorCompany(id=1240929926925316215, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, xref=2., ext=[AuthorCompanyExt(id=1240929926937899129, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, companyId=1240929926925316215, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2.海南省妇女儿童医学中心医学遗传与产前诊断科)])], figs=[ArticleFig(id=1240929930071044505, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=EN, label=Table 1, caption=

Results of neonatal genetic metabolic disease screening in Haikou

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病分类疾病名称确诊例数发生率（/10万）
氨基酸代谢病高蛋氨酸血症31.62
高精氨酸血症31.62
希特林蛋白缺乏症84.31
酪氨酸血症10.54
枫糖尿症10.54
同型半胱氨酸血症10.54
脂肪酸氧化障碍原发性肉碱缺乏症31.62
短链酰基辅酶A脱氢酶缺乏症21.08
中链酰基辅酶A脱氢酶缺乏症158.08
有机酸血症甲基丙二酸血症4222.62
丙酸血症21.08
异戊酸血症21.08
戊二酸血症Ⅰ型31.62
3-甲基巴豆酰辅酶A羧化酶缺乏症10.54
2-甲基丁酰辅酶A脱氢酶缺乏症10.54
总计8847.40
), ArticleFig(id=1240929930188485029, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=CN, label=表1, caption=

海口市新生儿遗传代谢病筛查结果

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病分类疾病名称确诊例数发生率（/10万）
氨基酸代谢病高蛋氨酸血症31.62
高精氨酸血症31.62
希特林蛋白缺乏症84.31
酪氨酸血症10.54
枫糖尿症10.54
同型半胱氨酸血症10.54
脂肪酸氧化障碍原发性肉碱缺乏症31.62
短链酰基辅酶A脱氢酶缺乏症21.08
中链酰基辅酶A脱氢酶缺乏症158.08
有机酸血症甲基丙二酸血症4222.62
丙酸血症21.08
异戊酸血症21.08
戊二酸血症Ⅰ型31.62
3-甲基巴豆酰辅酶A羧化酶缺乏症10.54
2-甲基丁酰辅酶A脱氢酶缺乏症10.54
总计8847.40
), ArticleFig(id=1240929930352062899, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=EN, label=Table 2, caption=

Genetic mutations of amino acid metabolic diseases in newborns in Haikou

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称例数突变基因位点数量（个）突变位点占比（%）
高蛋氨酸血症3MAT1A2c.895C>T1（50.00）
c.1177C>T1（50.00）
高精氨酸血症3ARG13c.212G>C1（33.33）
c.828G>A1（33.33）
c.636G> A1（33.33）
希特林缺乏症8SLC25A138c.847G>T1（12.50）
IVS16ins3kb1（12.50）
c.852_855del1（12.50）
c.1638_1660dup3（37.50）
c.615+5G >A2（25.00）
同型半胱氨酸血症1MTHFR2c.154C>T1（50.00）
c.1011G>T1（50.00）
), ArticleFig(id=1240929930465309116, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=CN, label=表2, caption=

海口市新生儿氨基酸代谢病的基因突变情况

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称例数突变基因位点数量（个）突变位点占比（%）
高蛋氨酸血症3MAT1A2c.895C>T1（50.00）
c.1177C>T1（50.00）
高精氨酸血症3ARG13c.212G>C1（33.33）
c.828G>A1（33.33）
c.636G> A1（33.33）
希特林缺乏症8SLC25A138c.847G>T1（12.50）
IVS16ins3kb1（12.50）
c.852_855del1（12.50）
c.1638_1660dup3（37.50）
c.615+5G >A2（25.00）
同型半胱氨酸血症1MTHFR2c.154C>T1（50.00）
c.1011G>T1（50.00）
), ArticleFig(id=1240929930586943940, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=EN, label=Table 3, caption=

Genetic mutations of fatty acid oxidation disorder in newborns in Haikou

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称例数突变基因位点数量（个）突变位点占比（%）
原发性肉碱缺乏症3SLC22A53c.1400C>G1（25.00）
c.760C>T1（25.00）
c.119T>G1（25.00）
短链酰基辅酶A脱氢酶缺乏症2ACADS 2c.989G>A1（50.00）
c.1148G>A1（50.00）
中链酰基辅酶A脱氢酶缺乏症15ACADM 12c.387+1delG3（25.00）
c.449_452 delCTGA2（16.67）
c.388-19T>A1（8.33）
c.1076C>T2（16.67）
c.1189T>A1（8.33）
c.1085G>A1（8.33）
c.467G>A1（8.33）
c.(_76226805) _(76229363_) del1（8.33）
), ArticleFig(id=1240929930733744590, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=CN, label=表3, caption=

海口市新生儿脂肪酸氧化障碍的基因突变情况

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称例数突变基因位点数量（个）突变位点占比（%）
原发性肉碱缺乏症3SLC22A53c.1400C>G1（25.00）
c.760C>T1（25.00）
c.119T>G1（25.00）
短链酰基辅酶A脱氢酶缺乏症2ACADS 2c.989G>A1（50.00）
c.1148G>A1（50.00）
中链酰基辅酶A脱氢酶缺乏症15ACADM 12c.387+1delG3（25.00）
c.449_452 delCTGA2（16.67）
c.388-19T>A1（8.33）
c.1076C>T2（16.67）
c.1189T>A1（8.33）
c.1085G>A1（8.33）
c.467G>A1（8.33）
c.(_76226805) _(76229363_) del1（8.33）
), ArticleFig(id=1240929930914099668, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=EN, label=Table 4, caption=

Genetic mutations of newborn organic acidemia in Haikou

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称例数突变基因位点数量（个）突变位点占比（%）
甲基丙二酸血症42MMACHC79c.609G>A30（37.97）
c.567dupT3（3.80）
c.271dupA3（3.80）
c.615C>A2（2.53）
c.541G>T1（1.27）
c.388T>C1（1.27）
c.599G> A1（1.27）
c.567dup1（1.27）
c.277-3_303del1（1.27）
c.81+1G>A2（2.53）
c.683C>T2（2.53）
c.658_660del10（12.66）
c.80A>G8（10.12）
c.482G>A14（17.72）
MUT 6c.1663G>A1（20.00）
c.1159A> C1（20.00）
c.1106G>A1（20.00）
c.6133G >A1（20.00）
c.1741C >T1（20.00）
c.1106G>A1（20.00）
丙酸血症2PCCA2c.2002G>A1（50.00）
c.1426C>T1（50.00）
异戊酸血症2IVD2c.467G>C1（50.00）
c.751T>C1（50.00）
戊二酸血症Ⅰ型3GCDH3c.932C>T1（33.33）
c.91G>T1（33.33）
IVS10-2A>C1（33.33）
3-甲基巴豆酰辅酶A羧化酶缺乏症1MCCC1c.1679dupA1（100.00）
2-甲基丁酰辅酶A脱氢酶缺乏症1ACADSB1c.848A>G1（100.00）
), ArticleFig(id=1240929931031540186, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=CN, label=表4, caption=

海口市新生儿有机酸血症的基因突变情况

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称例数突变基因位点数量（个）突变位点占比（%）
甲基丙二酸血症42MMACHC79c.609G>A30（37.97）
c.567dupT3（3.80）
c.271dupA3（3.80）
c.615C>A2（2.53）
c.541G>T1（1.27）
c.388T>C1（1.27）
c.599G> A1（1.27）
c.567dup1（1.27）
c.277-3_303del1（1.27）
c.81+1G>A2（2.53）
c.683C>T2（2.53）
c.658_660del10（12.66）
c.80A>G8（10.12）
c.482G>A14（17.72）
MUT 6c.1663G>A1（20.00）
c.1159A> C1（20.00）
c.1106G>A1（20.00）
c.6133G >A1（20.00）
c.1741C >T1（20.00）
c.1106G>A1（20.00）
丙酸血症2PCCA2c.2002G>A1（50.00）
c.1426C>T1（50.00）
异戊酸血症2IVD2c.467G>C1（50.00）
c.751T>C1（50.00）
戊二酸血症Ⅰ型3GCDH3c.932C>T1（33.33）
c.91G>T1（33.33）
IVS10-2A>C1（33.33）
3-甲基巴豆酰辅酶A羧化酶缺乏症1MCCC1c.1679dupA1（100.00）
2-甲基丁酰辅酶A脱氢酶缺乏症1ACADSB1c.848A>G1（100.00）
), ArticleFig(id=1240929931123814880, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=EN, label=Table 5, caption=

Follow-up results of neonates with inherited metabolic diseases in Haikou

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称确诊例数发育迟缓（%）正常（%）死亡（%）
高蛋氨酸血症30（0）3（100.00）0（0）
高精氨酸血症30（0）3（100.00）0（0）
希特林蛋白缺乏症82（25.00）6（75.00）0（0）
酪氨酸血症10（0）0（0）1（100.00）
枫糖尿症10（0）1（100.00）0（0）
同型半胱氨酸血症10（0）1（100.00）0（0）
短链酰基辅酶A脱氢酶缺乏症20（0）2（100.00）0（0）
原发性肉碱缺乏症30（0）3（100.00）0（0）
中链酰基辅酶A脱氢酶缺乏症153（20.00）12（80.00）0（0）
甲基丙二酸血症4229（69.05）12（28.57）2（4.76）
丙酸血症22（100.00）0（0）0（0）
戊二酸血症Ⅰ型30（0）3（100.00）0（0）
异戊酸血症20（0）2（100.00）0（0）
2-甲基丁酰辅酶A脱氢酶缺乏症10（0）1（100.00）0（0）
3-甲基巴豆酰辅酶A羧化酶缺乏症10（0）1（100.00）0（0）
), ArticleFig(id=1240929931237061096, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1240929925595721731, language=CN, label=表5, caption=

海口市遗传代谢病新生儿的随访状况

, figureFileSmall=null, figureFileBig=null, tableContent=
疾病名称确诊例数发育迟缓（%）正常（%）死亡（%）
高蛋氨酸血症30（0）3（100.00）0（0）
高精氨酸血症30（0）3（100.00）0（0）
希特林蛋白缺乏症82（25.00）6（75.00）0（0）
酪氨酸血症10（0）0（0）1（100.00）
枫糖尿症10（0）1（100.00）0（0）
同型半胱氨酸血症10（0）1（100.00）0（0）
短链酰基辅酶A脱氢酶缺乏症20（0）2（100.00）0（0）
原发性肉碱缺乏症30（0）3（100.00）0（0）
中链酰基辅酶A脱氢酶缺乏症153（20.00）12（80.00）0（0）
甲基丙二酸血症4229（69.05）12（28.57）2（4.76）
丙酸血症22（100.00）0（0）0（0）
戊二酸血症Ⅰ型30（0）3（100.00）0（0）
异戊酸血症20（0）2（100.00）0（0）
2-甲基丁酰辅酶A脱氢酶缺乏症10（0）1（100.00）0（0）
3-甲基巴豆酰辅酶A羧化酶缺乏症10（0）1（100.00）0（0）
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海口市新生儿遗传代谢病筛查结果及基因突变特点分析
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韩燕媚 1 , 付彬彬 1 , 王慧静 1 , 周俏苗 2
现代预防医学 | 儿少卫生与妇幼保健 2024,51(11): 1982-1987
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现代预防医学 | 儿少卫生与妇幼保健 2024, 51(11): 1982-1987
海口市新生儿遗传代谢病筛查结果及基因突变特点分析
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韩燕媚1 , 付彬彬1, 王慧静1, 周俏苗2
作者信息
  • 1.海口市妇幼保健院医学遗传科，海南 海口 570203
  • 2.海南省妇女儿童医学中心医学遗传与产前诊断科

    • 韩燕媚（1980—），女，本科，副主任医师，研究方向：医学遗传

通讯作者:

韩燕媚，E-mail:
Screening results of neonatal genetic metabolic diseases and analysis of gene mutation in Haikou
Yan-mei HAN1 , Bin-bin FU1, Hui-jing WANG1, Qiao-miao ZHOU2
Affiliations
  • *Department of Medical Genetics, Haikou Maternal and Child Health Hospital, Haikou, Hainan 570203, China
出版时间: 2024-06-10 doi: 10.20043/j.cnki.MPM.202312171
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摘要
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目的 分析海南省海口市新生儿遗传代谢病筛查结果及基因突变特点。方法 回顾性分析2017年3月—2021年3月在海口市妇幼保健院出生并予以相应的遗传代谢病筛查的185 660例新生儿临床一般资料。所有新生儿均于出生后7 d内采用串联质谱技术对遗传代谢病筛查，随后对新生儿的遗传代谢病筛查具体的阳性率予以统计，分析遗传代谢病具体的发病类型基因突变特点。结果 185 660例新生儿最终确诊遗传代谢病88例，总患病率为1/2 110（47.40/10万）。88例新生儿遗传代谢病中，有机酸血症、氨基酸代谢病、脂肪酸氧化障碍患病率分别1/3 640、1/10 921、1/9 283，其中甲基丙二酸血症、中链酰基辅酶A脱氢酶缺乏症、希特林蛋白缺乏症患病率占前三位。基因检测显示，42例甲基丙二酸血症共检出MUT、MMACHC突变基因，MMACHC突变基因中被检出的突变位点以c.609G>A最常见，占37.97%。15例中链酰基辅酶A脱氢酶缺乏症检出的ACADM突变基因以c.387+1delG（25.00%）、c.449_452 delCTGA（16.67%）、c.1076C>T（16.67%）突变位点为主；8例希特林缺乏症检出的SLC25A13突变基因以c.154C>T（37.50%）、c.1638_1660dup（25.00%）突变位点为主；其他遗传代谢病检出的突变基因多为2种或1种突变位点。治疗随访中，49例患儿正常，占55.68%；36例患儿发育迟缓，占40.90%；3例患儿死亡，占3.41%。结论 海南省海口市存在一定的新生儿遗传代谢病患病率，同时中链酰基辅酶A脱氢酶缺乏症、甲基丙二酸血症、希特林蛋白缺乏症患病率最高，并且其在突变位点上有自己的特点。

海南海口  /  遗传代谢病  /  新生儿  /  串联质谱法  /  基因突变

Objective To analyze the results of genetic metabolic disease screening and gene mutation characteristics in newborns in Haikou, Hainan. Methods A retrospective analysis was conducted on 185 660 newborns born at the Haikou Maternal and Child Health Hospital from March 2017 to March 2021 who underwent genetic metabolic disease screening. All newborns underwent tandem mass spectrometry screening for genetic metabolic diseases within 7 days after birth. The positivity rate of genetic metabolic disease screening in newborns was statistically analyzed, and the specific gene mutation characteristics of the metabolic diseases were investigated. Results Among 185 660 newborns in Haikou, 88 were diagnosed with genetic metabolic diseases, with a total prevalence rate of 1 in 2 110 (47.40 per 100 000). Among the 88 cases, the prevalence rates of organic acidemia, amino acid metabolism disorders, and fatty acid oxidation disorders were 1/3 640, 1/10 921, and 1/9 283, respectively, with methylmalonic acidemia, medium-chain acyl-CoA dehydrogenase deficiency, and citrin deficiency ranking the top three.Genetic testing revealed that in 42 cases of methylmalonic acidemia, MUT and MMACHC mutation genes were detected, with the c.609G>A mutation in the MMACHC gene being the most common（37.97%）. The ACADM mutation genes in 15 cases of medium-chain acyl-CoA dehydrogenase deficiency were mainly detected at c.387+1delG (25.00%), c.449_452delCTGA(16.67%), and c.1076C>T (16.67%). The SLC25A13 mutations in 8 cases of citrin deficiency were mainly detected at c.154C>T(37.50%) and c.1638_1660dup (25.00%). Other detected mutation genes in genetic metabolic diseases mostly had 2 or 1 mutation sites. During treatment and follow-up, 49 children were normal (55.68%), 36 children experienced developmental delays(40.90%), and 3 children died (3.41%). Conclusion Haikou, Hainan has a certain incidence of genetic metabolic diseases in newborns, with medium-chain acyl-CoA dehydrogenase deficiency, methylmalonic acidemia, and citrin deficiency having the highest prevalence. These diseases exhibit specific characteristics in mutation sites.

Haikou, Hainan  /  Genetic metabolic disease  /  Newborn  /  Tandem mass spectrometry  /  Gene mutation
韩燕媚, 付彬彬, 王慧静, 周俏苗. 海口市新生儿遗传代谢病筛查结果及基因突变特点分析. 现代预防医学, 2024 , 51 (11) : 1982 -1987 . DOI: 10.20043/j.cnki.MPM.202312171
Yan-mei HAN, Bin-bin FU, Hui-jing WANG, Qiao-miao ZHOU. Screening results of neonatal genetic metabolic diseases and analysis of gene mutation in Haikou[J]. Modern Preventive Medicine, 2024 , 51 (11) : 1982 -1987 . DOI: 10.20043/j.cnki.MPM.202312171
正文
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作为一类由基因发生突变造成蛋白功能出现异常而诱发的一系列代谢改变的遗传病，遗传代谢病的病种较多，其中新生儿遗传代谢病主要有有机酸血症、氨基酸代谢方面的疾病以及脂肪酸氧化障碍方面的疾病[1-2]，有研究显示，遗传代谢病发病后不仅导致机体代谢紊乱，同时可诱发不可逆神经系统损伤，对儿童生长和智力发育可产生严重的影响[3-4]。而早期用快速、简便方法对新生儿遗传性疾病筛查，对保障儿童正常体格及智力发育至关重要[5]。作为新生儿群体筛查遗传代谢病中具有广泛应用的手段，串联质谱技术能够为更多罕见遗传代谢病早期诊断以及治疗提供了决定性时机，同时也使较多患儿预后得到了有效的改善[6]，虽既往已有关于各地区筛查新生儿的遗传代谢疾病以及相应的基因特点分析报告[7-8]，但环境、医疗、样本量等因素导致不同地区新生儿遗传代谢病患病率、类型以及突变基因类型具有一定差异性，而遗传代谢疾病预后与疾病类型、诊断时间、治疗有关，早期发现并及时干预效果良好，预后较佳。因此，为了了解海南省海口市新生儿的遗传代谢疾病状况，并治疗提供相应的依据，本研究对本地区185 660例新生儿的遗传代谢病筛查相关结果及相应的基因突变特点予以分析，现报道如下。
1　资料与方法
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1.1　一般资料
回顾性分析2017年3月—2021年3月在海口市妇幼保健院出生并进行遗传代谢病筛查的185 660例新生儿临床一般资料，其中男性101 140例，女性84 520例；早产儿25 410例，足月儿160 250例；出生体质量<2 500 g者78 500例，≥2 500 g者107 160例。纳入标准：（1）均获得患儿家属知情同意；（2）均接受串联质谱技术检查；（3）均为活产新生儿者。排除标准：（1）伴有先天性疾病者；（2）临床方面的资料不全者。此次试验已获我院医学伦理委员会批准（审批号：[2023]03003）。
1.2　遗传代谢病筛查及基因检测方法
根据我国《新生儿疾病筛查技术规范》要求[9]，采用串联质谱仪（API-3200MD型，美国生物应用系统公司）进行遗传代谢病筛查检测，非衍生化多种氨基酸（由美国的PE公司提供）、琥珀酰丙酮和肉碱测定试剂盒对新生儿有机酸代谢异常、氨基酸代谢异常、脂肪酸代谢异常予以检测。样本采集：出生7 d内采集足跟血，并制作干血滤纸片（血片里面的血斑直径超过8 mm），随后密封后送检，需在1周内进行检测。串联质谱筛查：使用全自动打孔仪取圆形血片并放入微孔板中，随后再加入内标工作液，震荡孵育后转移至无包被洁净微孔中，最后封板检测。检测结果由专业医生分析，对初筛可疑阳性标本立即召回采血复查，复查后结果继续升高或未降低者应做尿液气相色谱分析，最终确诊疾病；筛查阳性主要通过百分位数法构建淄博串联质谱检测切值的上下限，加入检测指标在此次试验切值范围之外，则评估为可疑阳性。基因检测：应召回新生儿及其父母分别抽取静脉血，通过高通量测序结合高精准度DNA质谱仪来检测基因变异，同时采用芯片、MLPA等其他技术对单基因内拷贝数异常变异进行验证。通常采用遗传代谢病相关的测序包或全外显子进行基因诊断。含86个或277个基因的测序包常见基因为：ACADM、MMACHC、MMUT、SLC25A13等。新生儿希特林蛋白缺乏症（NICCD）二阶筛查采用包含SLC25A13基因16个位点的MassArray检测技术。
1.3　随访
所有确诊为遗传代谢病新生儿给予对症治疗，并定期进行跟踪随访，随访时间为5～30个月，末次随访截至2023年8月31日或发生随访终止事件，随访终止事件为发育迟缓[10]、死亡。随访过程中，氨基酸代谢病给予无苯丙氨酸奶粉及低苯丙氨酸饮食，定期复查苯丙氨酸浓度调整治疗方案；脂肪酸氧化障碍患儿口服左卡尼汀替代疗法，饮食注意多食瘦肉；有机酸血症患儿给予左卡尼汀、维生素B12、亚叶酸钙、甜菜碱或特殊奶粉等及时治疗。
1.4　统计学分析
采用SPSS 24.0软件或Excel电子表格进行统计分析，计数资料以率（%）表示。双侧检验水准α=0.05。
2　结果
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2.1　新生儿遗传代谢病筛查结果
本研究185 660例新生儿经过初筛后的阳性患者为7 640例，初筛阳性率为4.12%；召回复查6 840例，召回复查率为12.89%；复查阳性882例，复查阳性率为0.48%；最终确诊88例，总患病率为1/2 110（47.40/10万）。88例新生儿遗传代谢病中，有机酸血症51例，氨基酸代谢病17例，脂肪酸氧化障碍20例，患病率分别是1/3 640、1/10 921、1/9 283。其中有机酸血症主要是甲基丙二酸血症，42例（1/4 420，22.62/10万）；脂肪酸氧化方面的障碍主要是中链酰基辅酶A脱氢酶缺乏症，15例（1/12 377，8.08/10万）；氨基酸代谢病最为常见的是希特林蛋白缺乏症，8例（1/23 208，4.31/10万）。见表1。
2.2　新生儿遗传代谢病确诊病例的基因突变情况
42例甲基丙二酸血症患儿检出MUT、MMACHC突变基因，而MMACHC突变基因被检测出共14种突变位点，79个数量突变位点，最常见的是c.609G>A，占37.97%，其余的分别是c.658_660del（12.66%）、c.482G>A（17.72%）、c.80A>G（10.12%）；MUT突变基因被检出共6种突变位点，6个数量突变位点。15例中链酰基辅酶A脱氢酶缺乏症患儿检出ACADM突变基因，包括9种突变位点，突变位点数量12个，以c.387+1delG（25.00%）、c.449_452 delCTGA（16.67%）、c.1076C>T（16.67%）为主。8例希特林缺乏症患儿检出SLC25A13突变基因，包括5种突变位点，突变位点数量8个，以c.154C>T（37.50%）、c.1638_1660dup（25.00%）为主。原发性肉碱缺乏症、高精氨酸血症、戊二酸血症Ⅰ型突变基因中各检出3种突变位点；高蛋氨酸血症、短链酰基辅酶A脱氢酶缺乏症、同型半胱氨酸血症、丙酸血症、异戊酸血症突变基因中各检出2种突变位点；2-甲基丁酰辅酶A脱氢酶缺乏症和3-甲基巴豆酰辅酶A羧化酶缺乏症突变基因中各检出1种突变位点。见表2、3、4。
2.3　海口市遗传代谢病新生儿随访
遗传代谢病新生儿随访5～30个月。88例患儿在治疗随访中，49例患儿正常，占55.68%；36例患儿发育迟缓，占40.90%；3例患儿死亡，占3.41%。其中发育迟缓发生于丙酸血症29例、希特林蛋白缺乏症以及甲基丙二酸血症各有2例；死亡的患儿是酪氨酸血症1例、甲基丙二酸血症2例。见表5。
3　讨论
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遗传代谢方面的疾病作为比较复杂的单基因病，以新生儿期和小婴儿期发病率最高。既往有研究调查显示，新生儿遗传代谢病患病率在0.5%以上[11]，但早期无症状，容易造成漏诊、误诊。因此，早期筛查并明确相关疾病谱对控制新生儿遗传代谢病患病率至关重要。因此，为了解海南省海口市新生儿遗传代谢病患病状况，提高出生人口素质，降低发病率、病残率及死亡率，为本地区加强新生儿遗传代谢病的筛查、诊断、治疗工作提供参考，本研究对185 660例新生儿遗传代谢病筛查结果及基因突变特点进行分析。
本研究中海口市185 660例新生儿经过初筛、召回复筛后最终确诊遗传代谢病88例，总患病率为1/2 110，与朱颖杰等[12]、赵娜等[13]研究结论差别不大，但高于贵阳地区的1/7 553[14]、浙江省的1/4 535[15]，说明海口市新生儿遗传代谢病患病率偏高，可能与本研究纳入样本量多有关，同时也可能与不同地区人群的母体遗传代谢基因多态性差异有关，因此在本地区临床工作中应加强对新生儿遗传代谢病相关知识的普及，提高群众自觉利用新筛技术服务预防出生缺陷的认识，以进一步提高筛查率，进而通过早期诊断、合理治疗是避免或减少遗传代谢病危机生命；另外加强实验室质控，优化结果判读方法，根据当地疾病谱等信息选择合适的参考标准，以降低初筛阳性率。同时本研究88例新生儿遗传代谢病中，有机酸血症占比1/3 640，脂肪酸氧化障碍占比1/9 283，氨基酸代谢病占比1/10 921，其中有机酸血症患病率最常见，占总阳性病例的57.79%（51/88），与聊城地区研究结论一致[16]，同时有机酸血症占比高于上海部分地区[17]和呼和浩特地区[18]。本研究新生儿遗传代谢病疾病所有类型中以有机酸血症中的甲基丙二酸血症（22.62/10万）发生率最高，其次为脂肪酸氧化障碍中的中链酰基辅酶A脱氢酶缺乏症（8.08/10万）、氨基酸代谢病中的希特林蛋白缺乏症（4.31/10万），但既往韩连书等[19]研究中以高苯丙氨酸血症发生率最高，可能由于各地区之间的差异导致调查结果存在差别性，另外也提示甲基丙二酸血症是本地区的高发疾病。
88例遗传代谢病新生儿基因检测显示，42例甲基丙二酸血症患儿共检出MMACHC、MUT突变基因，而MMACHC突变基因共检出14种突变位点，以c.609G>A最常见（37.97%），其次为c.482G>A（17.72%）、c.658_660del（12.66%）、c.80A>G（10.12%），与杨茹莱等[20]研究结论一致。另外本研究88例遗传代谢病患儿经过治疗随访发现，40.90%（36例）患儿存在发育迟缓，其中甲基丙二酸血症占69.05%；3.41%患儿出现死亡（66.67%为甲基丙二酸血症），说明甲基丙二酸血症患儿预后较差，因此临床因重点关注甲基丙二酸血症，并尽早进行确诊与干预。
综上所述，海南省海口市存在一定的新生儿遗传代谢病患病率，同时以甲基丙二酸血症、中链酰基辅酶A脱氢酶缺乏症、希特林蛋白缺乏症患病率最高，并且其在突变位点上有自己的特点；另外随访发现发生遗传代谢病的新生儿发育迟缓患病率较高。
基金
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  • 海南省自然科学基金项目资助(821MS0847)
文献
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2024年第51卷第11期
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文章信息
doi: 10.20043/j.cnki.MPM.202312171
  • 接收时间：2023-12-13
  • 首发时间：2026-03-18
  • 出版时间：2024-06-10
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  • 收稿日期：2023-12-13
基金
海南省自然科学基金项目资助(821MS0847)
作者信息
    1.海口市妇幼保健院医学遗传科，海南 海口 570203
    2.海南省妇女儿童医学中心医学遗传与产前诊断科

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Family		 属数
Number of
genus		 种数
Number of
species		 占总种数比例
Percentage of
total species (%)		 属
Genus		 种数
Number of
species		 占总种数比例
Percentage of total
species (%)
鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78
小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39
多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39
红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87
小菇属 Mycena 11 5.26
光柄菇属 Pluteus 5 2.39
红菇属 Russula 17 8.13
栓菌属 Trametes 5 2.39
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