Objectives To study the clinical characteristics and early diagnosis of infant with both alpha 1 antitrypin deficiency (α1-ATD) and biliary atresia (BA). Methods The clinical characteristics, serum biochemical parameters, gene mutations and treatment of one infant with both α1-ATD and BA was reported. Related literatures about liver disease caused by α1-ATD were reviewed and analyzed. Results The infant was characterised with neonatal cholestasis, hepatomegaly, elevated serum ALT, AST, total bilirubin (TB), direct bilirubin (DB) and γ-glutamyltransferase (γ-GT) and absence of bile secretion from the duodenal drainage tube. BA was conifrmed by laparotomy and pathological examination and Kasai′s operation was performed. Further, the infant was confirmed by SERPINA 1 gene mutation analysis, which leads to the diagnosis of α1-ATD. The case of infant with both alpha 1 ATD and BA has not yet been reported at home and abroad. According to the literatures, children with α1-ATD were characterized with cholestasis, hepatomegaly, hypoproteinemia, high serum ALT and AST, coagulation disorders caused by vitamin K 1 deifciency and hepatic dysfunction. Prognosis was poor without early diagnosis and treatment. Conclusions For infant cholestasis, a lot of auxiliary examinations should be performed to identify the etiology of cholestasis. Gene analysis could help differential diagnosis. Prompt diagnosis and early treatment are the key to improve the survival rate and prognosis.%目的：探讨α1-抗胰蛋白酶缺乏症合并胆道闭锁的临床特点及早期诊断。方法回顾性分析1例α1-抗胰蛋白酶缺乏症合并胆道闭锁患儿的临床资料，并复习国内外相关文献。结果患儿，男，新生儿期即出现黄疸、肝脏肿大，血清谷丙转氨酶及谷草转氨酶升高、总胆红素和直接胆红素升高、γ-谷氨酰转肽酶增高，行十二指肠引流未引流出胆汁，手术探查、术中胆道造影及术后病理证实为胆道闭锁。基因检测发现SERPINA 1突变，明确诊断为α1-抗胰蛋白酶缺乏症合并胆道闭锁。复习国内外文献，α1-抗胰蛋白酶缺乏性肝病患儿主要表现为胆汁淤积性黄疸、肝脾肿大、低白蛋白血症、血清谷丙转氨酶及谷草转氨酶升高、维生素K缺乏或肝脏合成功能障碍导致的凝血异常疾病；若早期不能及时诊断及进行干预治疗可引起进行性肝病或肝硬化。结论对不明原因胆汁淤积性肝病的患儿应积极寻找病因，必要时行基因检测，及早诊断、治疗，改善预后。
展开▼
