新生儿肝衰竭1例  

A case of neonatal liver failure

作　　者：陆效笑 陆怡[2] 杨琳 马阳阳 王欢欢 LU Xiao-Xiao;LU Yi;YANG Lin;MA Yang-Yang;WANG Huan-Huan(Department of Neonatology,Children′s Hospital of Fudan University/National Children′s Medical Center/National Health Commission Key Laboratory of Neonatal Diseases,Shanghai 201102,China)

机构地区：[1]国家儿童医学中心/复旦大学附属儿科医院新生儿科/国家卫生健康委员会新生儿疾病重点实验室,上海201102 [2]国家儿童医学中心/复旦大学附属儿科医院肝病科,上海201102 [3]国家儿童医学中心/复旦大学附属儿科医院内分泌遗传代谢科,上海201102 [4]国家儿童医学中心/复旦大学附属儿科医院病理科,上海201102

出　　处：《中国当代儿科杂志》2024年第2期213-218,I0001,共7页Chinese Journal of Contemporary Pediatrics

摘　　要：患儿男,足月儿,28日龄,因发现皮肤黄染20 d、腹胀15 d入院。患儿生后1周起病,以皮肤黄染、肝脾大、大量腹水、肝功能异常进行性加重至肝衰竭、严重凝血功能障碍、血小板减少为主要表现。给予抗感染、限液利尿、保肝利胆、间断放腹水、换血,以及静脉注射免疫球蛋白、白蛋白、血浆等多种血制品治疗,病情无好转,入院第24天家属决定放弃治疗行临终关怀。患儿肝组织和父母血家系全外显子组测序未找到可以解释患儿肝衰竭的致病变异,最终尸体解剖肝组织病理提示先天性肝纤维化(congenital hepatic fibrosis,CHF)。鉴于CHF导致新生儿肝衰竭罕见,今后仍需对CHF病例的转归及其致病基因进一步研究。该文对新生儿肝衰竭的鉴别诊断进行重点描述,并介绍其多学科诊疗思路.The patient was a male infant,born full-term,admitted to the hospital at 28 days of age due to jaundice for 20 days and abdominal distension for 15 days.The patient developed symptoms of jaundice,hepatosplenomegaly,massive ascites,and progressively worsening liver function leading to liver failure,severe coagulation disorders,and thrombocytopenia one week after birth.Various treatments were administered,including anti-infection therapy,fluid restriction,use of diuretics,use of hepatoprotective and choleretic agents,intermittent paracentesis,blood exchange,and intravenous immunoglobulin,albumin,and plasma transfusions.However,the patient's condition did not improve,and on the 24th day of hospitalization,the family decided to discontinue treatment and provide palliative care.Sequencing of the patient's liver tissue and parental blood samples using whole-exome sequencing did not identify any pathogenic variants that could explain the liver failure.However,postmortem liver tissue pathology suggested congenital hepatic fibrosis(CHF).Given the rarity of CHF causing neonatal liver failure,further studies on the prognosis and pathogenic genes of CHF cases are needed in the future.This article provides a comprehensive description of the differential diagnosis of neonatal liver failure and introduces a multidisciplinary diagnostic and therapeutic approach to neonatal liver failure.

关 键 词：肝衰竭 先天性肝纤维化 胆汁淤积 腹水 新生儿 

分 类 号：R722.1[医药卫生—儿科]