发-肝-肠综合征1例并文献复习  

Tricho-hepato-enteric syndrome:a case report and literature review

作　　者：林惠姿 林云峰[1,2] 杨斌[1] 修文龙[1] Lin Huizi;Lin Yunfeng;Yang Bin;Xiu Wenlong(Department of Neonatology,Fujian Maternity and Child Health Hospital,College of Clinical Medicine for Obstetrics&Gynecology and Pediatrics,Fujian Medical University,Fujian Key Laboratory of Women and Children's Critical Diseases Research,Fuzhou 350001,China;Department of Neonatology,Fujian Children's Hospital(Fujian Branch of Shanghai Children's Medical Center),College of Clinical Medicine for Obstetrics&Gynecology and Pediatrics,Fujian Medical University,Fuzhou 350001,China)

机构地区：[1]福建省妇幼保健院新生儿科、福建医科大学妇儿临床医学院,福建省妇儿重大疾病研究重点实验室,福州350001 [2]福建省儿童医院(上海儿童医学中心福建医院)新生儿科福建医科大学妇儿临床医学院,福州350001

出　　处：《中华新生儿科杂志（中英文）》2024年第6期354-359,共6页Chinese Journal of Neonatology

摘　　要：目的分析发-肝-肠综合征(tricho-hepato-enteric syndrome,THES)的临床表型及基因型特点。方法回顾性分析2020年8月福建省妇幼保健院收治的1例THES患儿的临床资料。以“毛肝小肠综合征”、“发-肝-肠综合征”、“TTC37基因”、“SKIV2L基因”为关键词,检索中国知网、万方数据库、中华医学期刊全文数据库、维普中文期刊数据库;以“tricho-hepato-enteric syndrome”“trichohepatoenteric syndrome”“syndromic diarrhea”“TTC37 gene”“SKIV2L gene”为关键词,检索PubMed、Web of Science和Embase数据库,检索时间自建库至2023年11月,总结THES患儿的临床表现及基因特点。结果本例患儿系小于胎龄儿,胎龄31^(+4)周因“宫内发育迟缓”剖宫产娩出,生后51 d出现顽固性腹泻,体液免疫检查示IgG降低,基因检测发现TTC37基因发生c.3464_3465del和c.3507T>G复合杂合变异,确诊THES;予改为氨基酸配方奶喂养、调节肠道菌群等对症处理后,腹泻迁延反复,体重增长不良,因呼吸道感染、腹泻多次住院,随访至校正年龄1岁4月龄,腹泻缓解,但体格生长落后(<P_(3)),神经系统发育落后。共检索到中文文献5篇、英文文献33篇,加上本例共119例有较详细资料;该病主要临床表现包括顽固性腹泻(92.4%)、特征性毛发异常(95.7%)、面部畸形(86.4%)、宫内发育迟缓或小于胎龄(78.8%)、皮肤异常(53.8%)、肝损害(44.7%)、免疫缺陷(54.4%)、先天性心脏病(34.8%)和血小板异常(58.8%);基因检测发现TTC37基因变异69例(58.0%),SKIV2L基因变异50例(42.0%)。结论对于新生儿期或婴儿早期出现顽固性腹泻、特征性毛发异常,且合并肝损害、免疫缺陷等的患儿,应考虑THES可能,尽早行基因检测明确诊断。Objective To investigate the clinical phenotype and genotype features of tricho-hepato-enteric syndrome(THES).Methods The clinical features of an infant with diagnosis of THES admitted to Fujian Maternity and Child Health Hospital were retrospectively analyzed.Using"tricho-hepato-enteric syndrome""trichohepatoenteric syndrome""syndromic diarrhea""TTC37gene"and"SKIV2L gene"as keywords,relevant literature retrieved from databases including China National Knowledge Infrastructure(CNKI),Wanfang,Chinese Medical Journal,VIP,PubMed,Web of Science and Embase were reviewed,limiting the search to papers published until November 2023.To summarize the clinical manifestations and genetic characteristics of infants with THES.Results The patient was small for gestational age and delivered by cesarean section due to intrauterine growth retardation at 31+4 weeks of gestation.She was diagnosed with THES because of intractable diarrhea on the 51st d of life,humoral immunoassay with a decrease in IgG,and gene test with TTC37 gene c.3464_3465del and c.3507T>G complex heterozygous mutation.After changing to amino acid formula feeding,regulating intestinal flora,and symptomatic treatment,the diarrhea was protracted and repeated with poor weight gain,resulting in repeated hospitalization due to respiratory tract infection and diarrhea.When the patient was followed up to postmenstrual age of 1 year and 4 months,diarrhea was relieved,but physical growth was delayed(<P_(3))and nervous system development was delayed.Five Chinese and 33 English reports were retrieved.Together with this case,a total of 119 cases had detailed information.The common manifestations included intractable diarrhea(92.4%),characteristic hair abnormalities(95.7%),facial deformity(86.4%),intrauterine growth retardation or small for gestational age(78.8%),skin abnormalities(53.8%),liver damage(44.7%),immune deficiency(54.4%),congenital heart disease(34.8%)and platelet abnormality(58.8%).Mutations of TTC37 gene was involved in 69 cases(58.0%)and SKIV2L gene was involved

关 键 词：腹泻 婴儿 发-肝-肠综合征 变异 TTC37/SKIV2L基因 

分 类 号：R722.1[医药卫生—儿科]