Alagille综合征误诊为胆道闭锁1例并文献复习  

Alagille syndrome misdiagnosed as biliary atresia:a case report and literature review

作　　者：符高佳 林道炯 FU Gaojia;LIN Daojiong(Hainan Women and Children's Medical Center,Children's Hospital of Fudan University at Hainan,Haikou,Hainan 570312,China)

机构地区：[1]海南省妇女儿童医学中心,复旦大学附属儿科医院海南分院,海南海口570312

出　　处：《中国热带医学》2023年第7期773-777,共5页China Tropical Medicine

基　　金：海南省临床医学中心建设项目(No.琼卫医函[2021]75)。

摘　　要：通过报道1例以婴儿胆汁淤积为主要症状起病,诊疗过程曲折,最终诊断为Alagille综合征(Alagille syndrome, ALGS)的诊断过程,为临床医生提供该类患者的诊断经验。患儿男性,1岁11月,因“发现肝功能异常1年余”入院。查体可见前额宽,眼窝凹陷,眼距宽,尖下巴,肺动脉瓣区可闻及Ⅱ级收缩期杂音。生化结果示肝功能异常,伴总胆汁酸和γ-谷氨酰转肽酶显著升高。胸椎椎体CT平扫提示胸3~7椎体呈矢状椎体裂表现,肺动脉造影术提示肺动脉狭窄,基因检查示JAG1突变。结合患儿特殊面容、心脏畸形、脊柱畸形和胆汁淤积临床表现,遗传学分析结果,最终明确诊断为Alagille综合征。Alagille综合征是具有表型特征的慢性胆汁淤积的最常见原因,是一种累及多系统的显性遗传性疾病。多数患儿起病于新生儿期或生后3月内,多以胆汁淤积为主要表现,Alagille综合征需要和各种婴儿期胆汁淤积症相鉴别。由于胆道闭锁需尽早手术治疗,多数以胆汁淤积为主要临床表现的患儿早期被考虑为胆道闭锁,并行剖腹探查手术,若把Alagille综合征误诊为胆道闭锁而进行手术可使预后变差,由此可知Alagille综合征早期诊断面临的最大挑战是如何与胆道闭锁相鉴别。因此,医师在临床工作中需提高对罕见胆汁淤积性肝病的认知,在疾病早期,准确识别罕见的胆汁淤积性肝病,提高诊疗水平。By report a case in which the main symptom was cholestasis in an infant and the diagnosis of Alagille syndrome(ALGS)was made after a tortuous treatment process,so as to provide clinicians with experience in diagnosing this type of patient.The patient was a 1-year and 11-month-old male who was admitted to the hospital with"abnormal liver function found for more than 1 year".Physical examination showed a wide forehead,sunken eye sockets,wide eye spacing,a sharp chin,and a grade II systolic murmur in the pulmonary valve region.Biochemical findings showed abnormal liver function accompanied by significant elevation of total bile acids andγ-glutamyl transpeptidase.CT scan of the thoracic vertebrae showed sagittal vertebral fractures in the thoracic 3-7 vertebrae,and pulmonary arteriography showed pulmonary stenosis and genetic testing indicated a JAG1 mutation.Combining the patient's specific facial features,heart defects,spinal deformities,and bile stasis clinical symptoms,along with the genetic analysis results,the final diagnosis was confirmed as Alagille syndrome.Alagille syndrome is the most common cause of chronic cholestasis with phenotypic features and is a dominant inherited disease involving multiple systems.Most patients present with bile stasis as the main symptom within the first three months after birth.Alagille syndrome needs to be distinguished from various forms of cholestasis in infancy,and since biliary atresia requires early surgical treatment,most children with cholestasis as the main clinical manifestation are considered to have biliary atresia at an early stage and undergo a caesarean section.If Alagille syndrome is misdiagnosed as biliary atresia,and surgery may worsen the prognosis.Therefore,the biggest challenge in the early diagnosis of Alagille syndrome is how to distinguish it from biliary atresia.Therefore,physicians need to improve their knowledge of rare cholestatic liver disease in clinical practice to accurately identify rare cholestatic liver disease in the early stages of the disea

关 键 词：胆汁淤积症 ALAGILLE综合征 胆道闭锁 

分 类 号：R596.1[医药卫生—内科学]