Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease: Polycystic Liver Disease

Chebib, Fouad T.; Hogan, Marie C.

doi:10.1007/978-1-4939-7784-0_10

Cited by 4 publications

(3 citation statements)

References 107 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…CCA has been documented in patients with polycystic liver disease, and it has been suggested that the pathogenesis in these cases may be dysplasia within existing benign cysts . However, the literature does not indicate an increased rate of CCA in these patients, nor that cysts should be should be formally considered to be premalignant lesions per se.…”

Section: Precursor Lesions Of Ccamentioning

confidence: 99%

Anatomical, histomorphological and molecular classification of cholangiocarcinoma

Kendall

Verheij

Gaudio

et al. 2019

Liver International

255

210

View full text Add to dashboard Cite

Cholangiocarcinoma constitutes a heterogeneous group of malignancies that can emerge at any point of the biliary tree. Cholangiocarcinoma is classified into intrahepatic, perihilar and distal based on its anatomical location. Histologically, conventional perihilar/distal cholangiocarcinomas are mucin‐producing adenocarcinomas or papillary tumours; intrahepatic cholangiocarcinomas are more heterogeneous and can be sub‐classified according to the level or size of the displayed bile duct. Cholangiocarcinoma develops through multistep carcinogenesis and is preceded by dysplastic and in situ lesions. Definition and clinical significance of precursor lesions, including biliary intraepithelial neoplasia, intraductal papillary neoplasms of the bile duct, intraductal tubulopapillary neoplasms and mucinous cystic neoplasm, are discussed in this review. A main challenge in diagnosing cholangiocarcinoma is the fact that tumour tissue for histological examination is difficult to obtain. Thus, a major clinical obstacle is the establishment of the correct diagnosis at a tumour stage that is amenable to surgery which still represents the only curable therapeutic option. Current standards, methodology and criteria for diagnosis are discussed. Cholangiocarcinoma represents a heterogeneous tumour with regard to molecular alterations. In intrahepatic subtype, mainly two distinctive morpho‐molecular groups can currently be discriminated. Large‐duct type intrahepatic cholangiocarcinoma shows a high mutation frequency of oncogenes and tumour suppressor genes, such as KRAS and TP53 while Isocitrate Dehydrogenase 1/2 mutations and Fibroblast Growth Factor Receptor 2‐fusions are typically seen in small‐duct type tumours. It is most important to ensure the separation of the given anatomical subtypes and to search for distinct subgroups within the subtypes on a molecular and morphological basis.

show abstract

Section: Precursor Lesions Of Ccamentioning

confidence: 99%

Anatomical, histomorphological and molecular classification of cholangiocarcinoma

Kendall

Verheij

Gaudio

et al. 2019

Liver International

255

210

View full text Add to dashboard Cite

show abstract

“…Patients experience more aggressive cyst formation on the diseased organ (Chebib et al, 2018). The disease phenotypes in PKD and PLD could suggest that SEC63 and PKD1 and/or PKD2 function in the same pathway.…”

Section: Noteworthy Candidate Genesmentioning

confidence: 99%

Developing the polycystic kidney disease interactome

Brauer¹

2022

Preprint

View full text Add to dashboard Cite

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disease causing numerous renal cysts to form leading to adult renal failure. The PKD-causing genes, polycystic kidney disease-1 and -2 (PKD1 and PKD2), encode for proteins polycystin-1 and -2 (PC1 and PC2). These proteins form a complex through their C-termini at cilia with mutations abolishing their interaction and impairing ciliary localization. We report the first use of proximity-dependent biotinylation for identification (BioID) to characterize the PC1 PC2 C-terminal complex binding partners in HEK 293 cells. We identify high- confidence interacting partners including an enrichment of cilia-related, transporter activity and trafficking genes. We report interesting PC1 interactions including Biogenesis of Lysosome-Related Organelles Complex-1 (BLOC-1) subunits and BLOC-One-Related Complex (BORC) subunits. We also report endoplasmic reticulum (ER)-related proteins that likely contribute to PC2 ER localization and function. Overall, this research hopes to contribute information to how PC1 and PC2 traffic and function at cilia.

show abstract

“…Polycystic liver disease represents the most frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD) [1,2]. It rarely causes complications.…”

Section: Introductionmentioning

confidence: 99%

Severe polycystic liver disease: An unsual cause of chronic Budd-Chiari Syndrome

Fatima¹,

Dassouli²,

Errami³

et al. 2022

Arch Clin Gastroenterol

View full text Add to dashboard Cite

Autosomal dominant polycystic kidney disease is a hereditary disease, characterized by the development of cysts in the renal parenchyma with extra-renal manifestations. Liver damage is rarely a source of complications. A Budd-Chiari syndrome could occur following the compression of the supra-hepatic veins by the cysts. It is an exceptional mechanical complication. We present a case of a 54 year old woman, with a diagnostic of an asymptomatic autosomal dominat polycystic kidney disease since childhood was admitted to our hospital due to significantly increased abdominal girth. The physical examination showed grade III ascites. A paracentesis for relief at admission disclosed an exudative fluid. A abdominal computed tomographic scan showed multiples cystic lesions in the kidneys and liver, with a large hepatic cyst responsible for compression of the suprahepatic veins and the inferior vena cava resulting in chronic Budd-Chiari syndrome. The treatment was radiological drainage followed by percutaneous sclerosis of cysts to alleviation of the compression. Unfortunately, the patient died a few days after an intraperitoneal cystic rupture.

show abstract

Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease: Polycystic Liver Disease

Cited by 4 publications

References 107 publications

Anatomical, histomorphological and molecular classification of cholangiocarcinoma

Anatomical, histomorphological and molecular classification of cholangiocarcinoma

Developing the polycystic kidney disease interactome

Severe polycystic liver disease: An unsual cause of chronic Budd-Chiari Syndrome

Contact Info

Product

Resources

About