新生儿黏脂质贮积症Ⅱα/β型1例并文献复习  

Neonatal mucolipidosis typeⅡα/β:a case report and literature review

作　　者：张霞[1] 冯宗太[1] 杨祖铭[1] 崔铭玲 陈宇宏 Zhang Xia;Feng Zongtai;Yang Zuming;Cui Mingling;Chen Yuhong(Department of Neonatology,Suzhou Municipal Hospital,Suzhou Hospital of Nanjing Medical University,Suzhou 215002,China)

机构地区：[1]南京医科大学附属苏州医院,苏州市立医院新生儿科,苏州215002

出　　处：《中华新生儿科杂志（中英文）》2024年第9期541-546,共6页Chinese Journal of Neonatology

摘　　要：目的报道1例新生儿黏脂质贮积症(mucolipidosis,ML)Ⅱα/β型患儿并进行文献复习,总结MLⅡα/β型的临床特征及基因变异特点。方法对南京医科大学附属苏州医院新生儿科收治的1例新生儿MLⅡα/β型患儿的临床资料进行回顾性分析。以“新生儿”“黏脂质贮积症”“neonate”“newborn”“mucolipidosis”为关键词检索中国知网、万方数据库、维普中文期刊、中华医学期刊全文数据库、PubMed、Embase数据库,检索时间自建库至2023年12月,总结已报道的新生儿期起病的MLⅡα/β型患儿的临床特征和遗传学特点。结果本例患儿为足月小于胎龄低体重儿,生后因呼吸急促入院,查体发现皮肤松弛、干燥、粗糙,牙龈肥厚、舌后坠,鼻孔上翘,胸廓凹陷;查甲状旁腺素升高,胸腹部X线片及椎体CT检查提示多重骨发育不全,头颅MRI提示双侧脑室饱满,基因检测发现患儿GNPTAB基因存在c.88_89del(p.Thr30Hisfs*24)和c.1090C>T(p.Arg364*)2处杂合变异。共检索到44篇相关文献,加上本例共48例新生儿MLⅡα/β型患儿,国内患儿10例,国外患儿38例,其中39例(81.3%)存在多发性骨骼畸形,32例(66.7%)出生第1天发现颅面畸形,15例(31.3%)并发心脏畸形;22例有基因变异记录,其中13例纯合变异,9例复合杂合变异,c.1090C>T(p.R364X)是我国患儿最常见的变异,c.3503_3504delTC变异多见于欧美患儿。结论对生后存在特殊面容、多发骨骼畸形等临床表现的新生儿,应考虑ML的可能;MLⅡα/β型由GNPTAB基因变异所致,发病者多为纯合变异或复合杂合变异。Objective To summarize the clinical features and genetic characteristics of mucolipidosis(ML)IIα/βby reporting a case of neonatal MLⅡα/βand literature review.Methods The clinical data of a newborn with MLⅡα/βadmitted to the Department of Neonatology,Suzhou Hospital Affiliated to Nanjing Medical University were retrospectively analyzed.CNKI,Wanfang database,VIP Chinese Journal,the Chinese Medical Journal Full Text database,PubMed,Embase databases were searched using key words'(neonate OR newborn)AND(mucolipidosis)'both in English and Chinese,limiting papers published until December 2023.The clinical features and genetic characteristics of the reported neonates with MLⅡα/βwere analyzed and summarized.Results A full-term small-for-gestational-age infant was admitted to our hospital due to shortness of breath after birth.Physical examination after birth revealed loose,dry,rough skin,hypertrophic gingiva,falling tongue,upturned nostril,and depressed chest.Laboratory tests found higher parathyroid hormone.The chest and abdominal X-ray and CT scan of the vertebral body showed multiple osteogenesis imperfecta.Cranial MRI showed bilateral ventricular fullness.Genetic testing revealed two compound heterozygous variations in the GNPTAB gene,c.88_89del(p.Thr30Hisfs*24)and c.1090C>T(p.Arg364*).A total of 44 literatures involving 48 patients(including this case,10 Chinese patients and 38 foreign patients)with neonatal MLⅡα/βwere retrieved,39 cases(81.3%)of MLⅡα/βhad multiple skeletal deformities,32 cases(66.7%)of MLⅡα/βhad craniofacial deformities on the first day of life,15 cases(31.3%)were complicated with cardiac malformations.Gene variations were recorded in 22 patients,including 13 homozygous variations and 9 compound heterozygous variations.The c.1090C>T(p.R364X)variant was most common in Chinese patients,while c.3503_3504delTC variant was more common in European and American patients.Conclusions Neonates with special facial features and multiple skeletal malformations after birth should be susp

关 键 词：黏脂质贮积症 新生儿 GNPTAB基因 病例报道 文献复习 

分 类 号：R722.1[医药卫生—儿科]