Liver disease in hereditary hemorrhagic telangiectasia.
作者： Anne M. Larson
DOI: 10.1097/00004836-200302000-00013
关键词:
摘要: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an hereditary disorder that results in fibrovascular dysplasia with the development of telangiectasias and arteriovenous malformations. It predominantly involves skin, mucous membranes, viscera, lungs, brain. shows great genetic heterogeneity, its phenotypes have been classified based on recently identified mutated genes: endoglin (HHT-1) activin-like kinase receptor-1 (HHT-2). Other families phenotypic HHT do not bear these mutations; therefore, other genes are probably involved well. Liver involvement reported up to 30% persons affected by HHT. Large malformations liver can lead significant complications, including high-output congestive heart failure, portal hypertension, hepatic encephalopathy, biliary ischemia, failure. Embolization large remains controversial; however, transplantation successfully eradicate complications.
sci-hub.se 参考文章(172)
Jon S. Odorico, M. Nawar Hakim, Yolanda T. Becker, Willem Van der Werf, Alexandru Musat, Stuart J. Knechtle, Anthony M. D'Alessandro, Munci Kalayoglu, Liver transplantation as definitive therapy for complications after arterial embolization for hepatic manifestations of hereditary hemorrhagic telangiectasia Liver Transplantation. ,vol. 4, pp. 483- 490 ,(1998) , 10.1002/LT.500040609
Claire L. Shovlin, J.M.B. Hughes, E.G.D. Tuddenham, I. Temperley, Y.F.N. Perembelon, J. Scott, Christine E. Seidman, J.G. Seidman, A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genetics. ,vol. 6, pp. 205- 209 ,(1994) , 10.1038/NG0294-205
P ten Dijke, H Yamashita, H Ichijo, P Franzen, M Laiho, K Miyazono, C. Heldin, Characterization of type I receptors for transforming growth factor-beta and activin Science. ,vol. 264, pp. 101- 104 ,(1994) , 10.1126/SCIENCE.8140412
Richard C Trembath, Jennifer R Thomson, Rajiv D Machado, Neil V Morgan, Carl Atkinson, Ingrid Winship, Gerald Simonneau, Nazzareno Galie, James E Loyd, Marc Humbert, William C Nichols, Jonathan Berg, Alessandra Manes, Julie McGaughran, Michael Pauciulo, Lisa Wheeler, Nicholas W Morrell, None, Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia The New England Journal of Medicine. ,vol. 345, pp. 325- 334 ,(2001) , 10.1056/NEJM200108023450503
Christian Hillert, Dieter C. Broering, Matthias Gundlach, Wolfram T. Knoefel, Jakob R. Izbicki, Xavier Rogiers, Hepatic involvement in hereditary hemorrhagic telangiectasia: An unusual indication for liver transplantation Liver Transplantation. ,vol. 7, pp. 266- 268 ,(2001) , 10.1053/JLTS.2001.21313
Helen M. Arthur, Jan Ure, Andrew J.H. Smith, Glenn Renforth, David I. Wilson, Evelyn Torsney, Richard Charlton, Dinah V. Parums, Trevor Jowett, Douglas A. Marchuk, John Burn, Austin G. Diamond, Endoglin, an Ancillary TGFβ Receptor, Is Required for Extraembryonic Angiogenesis and Plays a Key Role in Heart Development Developmental Biology. ,vol. 217, pp. 42- 53 ,(2000) , 10.1006/DBIO.1999.9534
H Özdemir, ET Ilgit, ÖZNUR Konus, C Aytekin, S Isik, None, Hepatic color Doppler sonography for hereditary hemorrhagic telangiectasia. Abdominal Imaging. ,vol. 21, pp. 501- 503 ,(1996) , 10.1007/S002619900112
Dieter Burckhardt, Georg A Stalder, Hans Ludin, Leonard Bianchi, Hyperdynamic circulatory state due to Osler-Weber-Rendu disease with intrahepatic arteriovenous fistulas American Heart Journal. ,vol. 85, pp. 797- 800 ,(1973) , 10.1016/0002-8703(73)90431-6
Jun-ichi MARUYAMA, Misuzu WATANABE, Sokichi ONODERA, Naoyuki HASEBE, Hirohisa YAMASHITA, Katsuyuki TOBISE, A case of Rendu-Osler-Weber disease with cerebral hemangioma, multiple pulmonary arteriovenous fistulas and hepatic arteriovenous fistula. Japanese Journal of Medicine. ,vol. 28, pp. 651- 656 ,(1989) , 10.2169/INTERNALMEDICINE1962.28.651
Tilman Bauer, Peter Britton, David Lomas, Derek G.D. Wight, Peter J. Friend, Graeme J.M. Alexander, Liver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia. Journal of Hepatology. ,vol. 22, pp. 586- 590 ,(1995) , 10.1016/0168-8278(95)80455-2