26例进行性家族性肝内胆汁淤积症患儿临床表型特点及随访  

Clinical phenotypic characteristics and follow-up of 26 children with progressive familial intrahepatic cholestasis

作　　者：崔晓双 何强[2] 张晶[1] 李东丹[3] 叶晓琳 聂晓璐[4] 赵春娜[1] 徐樨巍[1] Cui Xiaoshuang;He Qiang;Zhang Jing;Li Dongdan;Ye Xiaolin;Nie Xiaolu;Zhao Chunna;Xu Xiwei(Department of Gastroenterology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Department of Traditional Chinese Medicine,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Department of Nutrition,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Center for Clinical Epidemiology and Evidence-based Medicine,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心、首都医科大学附属北京儿童医院消化科,100045 [2]国家儿童医学中心、首都医科大学附属北京儿童医院中医科,100045 [3]国家儿童医学中心、首都医科大学附属北京儿童医院营养科,100045 [4]国家儿童医学中心、首都医科大学附属北京儿童医院临床流行病学与循证医学中心,100045

出　　处：《中国小儿急救医学》2023年第10期756-760,共5页Chinese Pediatric Emergency Medicine

摘　　要：目的了解进行性家族性肝内胆汁淤积症(PFIC)1~6型的临床表型及预后的特点。方法收集北京儿童医院2015至2022年诊断的PFIC病例,对临床表型特点、治疗及预后进行对比分析。结果共诊断胆汁淤积性肝病患儿628例,其中PFIC 26例,占4.1%。PFIC 2型病例数最多14例(53.8%),其次为PFIC 3型5例(19.2%),PFIC 1型3例(11.5%),PFIC 4型及6型各2例(7.7%),未发现PFIC 5型病例。1型、2型、4型及6型起病年龄较早(2 d~21个月),3型起病年龄范围广(8~145个月)。症状表现有黄疸(96.2%),瘙痒(42.3%),黏膜出血(15.4%);1型3例均存在腹泻、营养不良的肝外表现;3型2例发现既已终末期肝病。PFIC 3型血清γ-谷氨酰基转移酶均升高(97.2~439.5 U/L),余型别正常;26例胆汁酸(10.1~599.6μmol/L)均升高。腹部超声以肝大(80.8%)、肝实质回声增强(73.1%)为主,部分伴脾大(61.5%);肝硬度6.3~23.1 kPa,>9 kPa共21例(80.8%)。26例患儿中失访1例,11例单纯口服药物治疗有效;14例患儿药物治疗仍有病情反复或进展:4例接受了肝移植(3例预后良好,1例死亡),2例接受了胆道引流术,6例仍在口服药物,2例疾病进展未积极干预死亡。结论PFIC中,2型最常见,各型多婴儿期起病。黄疸、瘙痒、肝脾肿大为常见临床表现,1型可见肝外表现;3型可以终末期肝病起病。胆汁酸均升高;除3型外,血清γ-谷氨酰基转移酶均正常。口服药物部分患儿有一定效果,但半数以上疾病进展,部分需胆道引流或肝移植。Objective To investigate the clinical phenotype and prognosis among different genotypes of progressive familial intrahepatic cholestasis(PFIC)by cases analysis.Methods The PFIC cases diagnosed at Beijing Children′s Hospital from 2015 to 2022 were collected,and the clinical phenotypic characteristics,treatment and prognosis were compared and analyzed.Results A total of 628 cases of cholestatic liver disease were diagnosed,and 26 cases of PFIC were found,accounting for 4.1%.The number of PFIC 2 were the most,14(53.8%)cases;three(11.5%)cases were PFIC 1;five(19.2%)cases were PFIC 3;while two(7.7%)cases were PFIC 4 and PFIC 6,respectively,and there was no case of PFIC 5.Type 1,2,4,and 6 had early onset ages(2 days to 21 months),while type 3 had a wide range of onset ages(8 to 145 months).The symptoms included jaundice(96.2%),pruritus(42.3%),and mucosal bleeding(15.4%).All three cases of type 1 had extrahepatic manifestations of diarrhea and malnutrition.Two cases of type 3 were found to have end-stage liver disease.Cases of PFIC 3 had increased serumγ-glutamyltransferase(97.2-439.5 U/L),while those of other types were normal.The bile acids were all increased(10.1-599.6μmol/L).Abdominal ultrasound mainly showed liver enlargement(80.8%)and enhanced echogenicity of liver parenchyma(73.1%),enlargement of the spleen(61.5%).Ultrasound liver elastography ranged from 6.3 kPa to 23.1 kPa,there were 21(80.8%)cases≥9 kPa.Among 26 cases,one case was lost to follow-up,and 11 cases were effective by oral medication alone.Fourteen children were still suffering from relapse or progress after drug treatment:four cases received liver transplantation(three cases had a good prognosis and one case died),two cases received biliary drainage,six cases were still taking drugs orally,and two cases died without active intervention in disease progress.Conclusion Type 2 is the most common type in PFIC.The onset of most cases is in infancy.Jaundice,pruritus and hepatosplenomegaly are common clinical manifestations,and extrahepatic manifesta

关 键 词：儿童 进行性家族性肝内胆汁淤积症 临床表型 预后 

分 类 号：R725.7[医药卫生—儿科]