Polycystic liver disease

Policističnu bolest jetre obilježava prisutnost brojnih cista podrijetlom kolangiocita koje postupno zamjenjuju jetreni parenhim. Bolest se klasificira kao nasljedna ciliopatija i kolangiopatija s obzirom da su promijenjene primarne cilije kolangiocita. Dva su najčešća tipa bolesti: izolirana autosomno dominatna policistična bolest jetre te policistična bolest jetre u sklopu autosomno dominatne policistične bolesti bubrega. U uznapredovaloj fazi bolesti pacijenti imaju znatno uvećanu jetru koja uzrokuje niz simptoma i komplikacija. Najčešći simptomi su abdominalna distenzija i bol te simptomi kompresije na okolne organe. Jetrena je funkcija kod većine pacijenata dugo očuvana. Osnova dijagnoze je ultrazvučni prikaz cista u jetri i/ili bubrezima, uz autosomno dominantan obrazac nasljeđivanja bolesti u obitelji. Klinička se dijagnoza potvrđuje dokazom mutacije gena PRKCSH i Sec63 u slučaju izolirane bolesti, ili mutacije gena PC-1 i PC-1 za bolest u sklopu policistične bolesti bubrega. Terapija ovisi o jetrenom fenotipu, ozbiljnosti kliničke slike i kvaliteti života. Tradicionalno je ograničena na simptomatsko liječenje i kirurške intervencije. Ni jedna terapija nije u potpunosti uspješna i ne mijenja prirodni tok bolesti. Štoviše, visok je postotak recidiva bolesti. Jedini za sada poznati lijekovi koji usporavaju progresiju bolesti i dovode do poboljšanja kvalitete života pacijenata su analozi somatostatina. Ovaj pregledni rad nudi sažet prikaz etiopatogeneze, dijagnostike i liječenja policistične bolesti jetre.Polycystic liver disease is characterized by the presence of numerous cholangiocyte-derived hepatic cysts that progressively replace the liver tissue. The disease is classified as an inherited ciliopathy and cholangiopathy as pathology exists at the level of the primary cilia of cholangiocytes. There are two main types of disease: isolated polycystic liver disease and polycystic liver disease associated with autosomal dominant polycystic kidney disease. In advanced stages patients have considerably enlarged livers which cause a spectrum of clinical features and complications. The most common symptoms are abdominal distension, abdominal pain and symptoms that are result of compression of adjacent tissue. Liver function remains long preserved in the majority of patients. Ultrasonographic imaging of the cysts in the liver and/or kidneys is the basis of diagnosis and secondly a positive family history compatible with an autosomal dominant inheritance pattern. Clinical diagnosis is confirmed by screening mutations of the PRKCSH and Sec63 genes for isolated disease, or mutations of the PKD-1 and PKD-2 genes for disease associated with autosomal dominant polycystic kidney disease. Management is based on the liver phenotype, severity of clinical features and quality of life. It is traditionally limited to symptomatic management and surgical interventions. There is still no intervention that is completely effective or alters the natural history of the disease. Moreover, the recurrence rate is high. The only available drug treatments that halt disease progression and improve quality of life are somatostatin analogues. This review paper provides concise representation of the etiopathogenesis, the diagnosis and the treatment of polycystic liver disease