PKHD1基因突变致先天性肝纤维化1例并文献复习

Congenital hepatic fibrosis caused by PKHD1 gene mutation:a case report and literature review

目的探讨多囊肾/多囊肝病变1(PKHD1)基因突变致先天性肝纤维化(CHF)的临床特征、病理特点、基因突变位点及诊疗方法,旨在为临床诊疗此病提供参考。方法回顾性分析1例PKHD1基因突变致CHF患者的临床诊治过程,并对相关文献进行复习。结果患者以急性上消化道出血起病,通过影像学、组织学和遗传学检查诊断为CHF,基因检测显示PKHD1基因存在双重杂合突变(c.7445G>A及c.7769T>G);经内镜、介入、药物等治疗,患者病情好转后出院,随访到发病后1年,未见复发。结论CHF较为罕见,容易被误诊或漏诊,确诊主要依靠病理组织学形态,患者有消化道出血,且肝功能正常或轻度异常时需考虑PKHD1基因致CHF的可能,基因检测技术有助于该病的早期诊断。

Objective To explore the clinical features,pathological features,gene mutation loci and diagnosis and treatment of congenital hepatic fibrosis(CHF)caused by polycystic kidney and hepatic disease 1(PKHD1)gene mutation,in order to provide reference for clinical diagnosis and treatment of this disease.Methods The clinical course of 1 patient with CHF caused by PKHD1 gene mutation was retrospectively analyzed,and the related literature was reviewed.Results The patient started with acute upper gastrointestinal bleeding and was diagnosed as CHF by imaging,histology,and genetic examination.Genetic examination revealed double heterozygous mutations in PKHD1 gene(c.7445G>A and c.7769T>G).After endoscopic,interventional and drug treatment,the patient's condition improved and was discharged from the hospital.No recurrence was found in the follow-up to 1 year after the onset of the disease.Conclusion CHF is rare and easy to be misdiagnosed or missed.The diagnosis is mainly based on histopathological morphology.When patients have gastrointestinal bleeding and normal or mildly abnormal liver function,the possibility of CHF caused by PKHD1 gene should be considered.Genetic testing technology can help in the early diagnosis of this disease.