三胎妊娠的3例新生儿同患Ⅴ型先天性成骨不全  

Type V osteogenesis imperfecta:a report of three cases in a triplets

作　　者：李雁彬 王玲 陈晓文 苏衡 王萍 魏谋 Li Yanbin;Wang Ling;Chen Xiaowen;Su Heng;Wang Ping;Wei Mou(Department of Neonatology,Guangzhou Women and Children's Medical Center,Guangzhou 510000,China)

机构地区：[1]广州市妇女儿童医疗中心新生儿科,广州510000

出　　处：《中华围产医学杂志》2024年第9期777-779,共3页Chinese Journal of Perinatal Medicine

摘　　要：本文报告了干扰素诱导跨膜蛋白5(interferon-induced transmembrane protein 5,IFITM5)基因杂合变异导致的Ⅴ型先天性成骨不全(osteogenesis imperfecta,OI)的1家系3例患儿。该三胞胎患儿分别在生后21、16和17 d以气促和多发骨折起病,入院体格检查时均见散在花斑纹、硬肿,三胞胎之二右手腕见数粒疱疹;三胞胎之小口腔可见散在疱疹、溃烂;合并新生儿败血症、休克、呼吸衰竭、新生儿坏死性小肠结肠炎及颅内感染。全外显子测序检测到三胞胎患儿致病变异位于干扰素诱导跨膜蛋白5(interferon-induced transmembrane protein 5,IFITM5)编码基因的5'-非翻译区,1个碱基C转换成T(c.-14C>T)。IFITM5基因相关疾病为Ⅴ型OI,为常染色体显性遗传。结合IFITM5基因变异所致临床表型,3例患儿确诊为Ⅴ型OI。经过呼吸支持、抗感染及对症支持治疗后三胞胎均顺利出院。出院后随访至3岁,三胞胎营养状况良好,大运动发育稍迟缓,均再发不同程度、不同部位的骨折。This article reported a set of triplets with type V osteogenesis imperfecta(OI)caused by heterozygous variation in the interferon-induced transmembrane protein 5(IFITM5)gene.The triplets developed shortness of breath and multiple fractures at 21,16,and 17 d after birth,respectively.On theadmission,scattered speckled patterns and hard swelling were observed in all three triplets during physical examination;several blisters were found on the right wrist of the second triplet;the smallest triplet had scattered blisters and ulcers in the mouth,complicated by neonatal sepsis,shock,respiratory failure,necrotizing enterocolitis,and intracranial infection.Whole-exome sequencing identified a pathogenic mutation in the triplets,that was located in the 5'-untranslated region of the IFITM5 coding gene,where a base C was converted to T(c.-14C>T).IFITM5 gene of the triplets.IFITM5 gene mutation can result in type V OI,which is inherited in an autosomal dominant pattern.Based on the clinical phenotype caused by the variation in the IFITM5 gene and literature review,the triplets were diagnosed with congenital type V OI.After respiratory support,anti-infection treatment,and symptomatic support treatment,all three triplets were discharged with improved condition.They were followed up to the age of three years and their nutritional status were good.However,their gross motor development was slightly delayed,and they all experienced different degrees and sites of bone fractures again.

关 键 词：成骨不全 V型成骨不全 干扰素诱导跨膜蛋白5 新生儿 三胎妊娠 

分 类 号：R722.1[医药卫生—儿科]