Kong Yuan-Mei, Yuan Ke, Wang Chun-Lin
Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, Hangzhou 310003, Zhejiang Province, China.
World J Clin Cases. 2023 Jan 26;11(3):629-634. doi: 10.12998/wjcc.v11.i3.629.
Congenital biliary atresia (CBA) is a serious hepatobiliary disease in children with unknown etiology. Its outcome is often liver transplantation or death. Clarifying the etiology of CBA is of great significance for prognosis, treatment, and genetic counseling.
A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of "yellow skin for more than 6 mo". Soon after birth, the patient developed jaundice, which then progressively intensified. A "laparoscopic exploration" indicated "biliary atresia". After coming to our hospital, genetic testing suggested a mutation [loss 1 (exons 6-7)]. The patient recovered and was discharged after living donor liver transplantation. After discharge, the patient was followed up. The condition was controlled by oral drugs, and the patient's condition was stable.
CBA is a complex disease with a complex etiology. Clarifying the etiology is of great clinical importance for treatment and prognosis. This case reports CBA caused by a mutation, which enriches the genetic etiology of biliary atresia. However, its specific mechanism needs to be confirmed by further research.
先天性胆道闭锁（CBA）是一种病因不明的儿童严重肝胆疾病。其结局通常是肝移植或死亡。明确CBA的病因对预后、治疗及遗传咨询具有重要意义。
一名6个月24天的中国男婴因“皮肤黄染6个多月”入院。患儿出生后不久即出现黄疸，随后逐渐加重。“腹腔镜探查”提示“胆道闭锁”。来我院后，基因检测提示存在一种突变[缺失1（外显子6 - 7）]。该患儿在活体肝移植后康复出院。出院后对其进行随访。病情通过口服药物控制，患儿情况稳定。
CBA是一种病因复杂的疾病。明确病因对治疗和预后具有重要的临床意义。本病例报告了由一种突变引起的CBA，丰富了胆道闭锁的遗传病因。然而，其具体机制尚需进一步研究证实。
