多囊肝病患者临床病理特征及基因变异分析

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[中图分类号] R657.3 [文献标志码] A

Clinicopathological features and genetic variations in patients with polycystic liver disease ZHOU

Xueyan，WANGYe，XINGRui，LIYixian，HANXinyi，ZHAOPeng （Qingdao Medical College of Qingdao University，Qingdao 266071，China）

[ABSTRACT]ObjectiveToinvestigatetheclinicopathological features and gene mutation characteristicsof patients with polycysticliverdisease（PLD）.MethodsAretrospectiveanalysis wasperformedforthclinicaldataof12PLDpatients whoattendedDepartmentofLiverTransplantationinourhospitalfromApril2o19toDecember023，andtheirclinicalandhistological features were analyzed.Whole-exomesequencing was performed forpathologicalsamplesof livertisuefromallpatients.Results Among the 12 patients with PLD，there were 6 male patients and 6 female patients，with a mean age of （52.3±12.0） years. Of all 12patients，8underwentalogeneiclivertransplantation，2underwentlaparosopicfenestrationofhepaticcysts，underentall geneiccombinedliver-kidneytransplantation，andlunderwentlaparoscopiclefthemihepatectomy.There weresimilarpathological changesinthelivertissueofallpatients，withhepaticcystwallscomposedofhyperplasticfibrous tisueandlinedbyasinglelayer offlat，uboidal，orolumnaepithei，diferentctallticknessesduetoaringdegresoffroushyperplasiandother changesincludingchronicinflammatorycellinfiltration，degeneration，andhmorrhage.Wholeexomesequencingshowedvariants in the five PLD pathogenic genes PKD1，PKHD1，PRKCSH，PKD2，and LRP5 in eight patients，among which PKDI ， PKHD1，andPKKCSH exhibited higher mutation frequencies，andthe mutationtypes included missnse mutations and insertions-deletions. ConclusionPatients with PLD may have multiple pathogenic mutations， predominantly in the PKDI ， PKHD1，and PKKCSH genes，but thehistopathological featuresof theliverremainconsistent acrossdiferent mutationtypes.

[KEY WORDs]Polycystic liver disease；Polycystic kidney diseases;DNA mutational analysis;Whole exome sequencing; INDEL mutation；Liver transplantation；Prognosis

多囊肝病（polycysticliverdisease，PLD）是一种罕见的先天遗传性疾病，其临床特征为肝脏内形成大量囊肿。（剩余8140字）