Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

“…Genetic alterations in PC genes result in hepatorenal fibrocystic diseases such as hereditary autosomal dominant and autosomal recessive polycystic kidney diseases, which are primarily caused by mutations in PKD1, PKD2 and PKHD1 ( 7 – 9 ). In autosomal dominant polycystic liver disease, in which cysts form only within the liver, most causative genes encode ER-associated proteins, such as PRKCSH and SEC63 , that play roles in protein transport, folding and trafficking to PC ( 10 – 13 ), (cyst genetics covering hepatic fibropolycystic disease in autosomal dominant polycystic kidney or liver disease and autosomal recessive polycystic kidney disease collectively referred to as PCLDs), summarised in Figure 1a and reviewed in ( 14 ). Ultimately, evidence from human disease genetics strongly implicates PC dysfunction as the root cause of hepatic cyst development.…”

Simultaneous Echinococcal superinfection in a patient with polycystic liver disease

“…echinococcosis of the liver, liver surgery, parasitic infection, polycystic liver to medical therapy or those with symptomatic or clinically significant cysts. 2 Surgical options include total pericystectomy, endocystectomy with partial pericystectomy, or total endocystectomy, with the choice depending on cyst size, location, number, and patient's overall condition. 4 Polycystic liver disease is characterized by the progressive development of multiple cysts in the liver.…”

“…Intermediate hosts, including humans, become infected by accidentally ingesting these eggs. Once ingested, the eggs migrate through the portal venous or lymphatic pathways, primarily affecting the liver (80%) or lungs (less frequently other organs such as the spleen, brain, or kidneys) 2 . Echinococcal cysts consist of two layers: the endocyst, formed by the parasite, and the pericyst, representing the host's reactive tissue.…”

“…Accurate management of echinococcosis requires a multidisciplinary approach, involving clinical features, serology, and imaging, with ultrasound being the preferred diagnostic modality due to its ability to provide detailed cyst characteristics 3 . Albendazole and mebendazole are the mainstay medical treatments, while surgical intervention is considered for patients with inadequate response to medical therapy or those with symptomatic or clinically significant cysts 2 . Surgical options include total pericystectomy, endocystectomy with partial pericystectomy, or total endocystectomy, with the choice depending on cyst size, location, number, and patient's overall condition 4 …”

“…Once ingested, the eggs migrate through the portal venous or lymphatic pathways, primarily affecting the liver (80%) or lungs (less frequently other organs such as the spleen, brain, or kidneys). 2 Echinococcal cysts consist of two layers: the endocyst, formed by the parasite, and the pericyst, representing the host's reactive tissue. Accurate management of echinococcosis requires a multidisciplinary approach, involving clinical features, serology, and imaging, with ultrasound being the preferred diagnostic modality due to its ability to provide detailed cyst characteristics.…”