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Alpha -Antitrypsin deficiency and liver disease

, : Alpha -Antitrypsin deficiency and liver disease. Deutsche Medizinische Wochenschrift 118(49): 1819-1824

alpha -Antitrypsin deficiency is one of the most frequent heritable metabolic diseases in Europe. There are several phenotypes that may be responsible for the deficiency and manifest themselves in the lungs or in the liver.

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Related references

Lang, T.; Mühlbauer, M.; Strobelt, M.; Weidinger, S.; Hadorn, H.B., 2005: Alpha-1-antitrypsin deficiency in children: liver disease is not reflected by low serum levels of alpha-1-antitrypsin - a study on 48 pediatric patients. Alpha-1-antitrypsin (alpha1-AT) is an important protease inhibitor. The phenotypes are characterized by a low total serum alpha1-AT or by an abnormal protein accumulating in the hepatocytes. The aim of our study was to examine a correlation of tot...

Wu, Y.; Whitman, I.; Molmenti, E.; Moore, K.; Hippenmeyer, P.; Perlmutter, D.H., 1994: A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. Liver injury in PiZZ alpha 1-antitrypsin (alpha 1-AT) deficiency probably results from toxic effects of the abnormal alpha 1-AT molecule accumulating within the ER of liver cells. However, only 12-15% of individuals with this same genotype develop...

Wu, Y.; Whitman, I.; Perlmutter, D.H., 1993: A defect in intracellular degradation of the mutant alpha-1 antitrypsin molecular correlates with liver disease phenotype in PIZZ alpha-1 antitrypsin deficiency. Clinical Research 41(2): 205A

Yoon, D.K.; Kueppers, F.; Genta, R.M.; Khaoustov, V.I.; Klintbalm, G.B.; Yoffe, B., 2000: Alpha-1-antichymotrypsin deficiency in two siblings with end-stage liver disease and phenotype SZ alpha-1-antitrypsin deficiency. Hepatology 32(4 Pt 2): 488A, October

Lammens, P.; Levy, V.G.; Martin, J.P.; Feldman, G.; Caroli, J., 1974: Budd-Chiari syndrome associated with Pis or Piso type alpha 1 antitrypsin deficiency. Alpha 1 antitrypsin and the liver: review of the literature. Medecine & Chirurgie Digestives 3(6): 409-415

O'Riordan, K.; Blei, A.; Rao, M.S.; Abecassis, M., 1997: alpha 1-antitrypsin deficiency-associated panniculitis: resolution with intravenous alpha 1-antitrypsin administration and liver transplantation. Panniculitis is a rare complication of alpha 1-antitrypsin (A1AT) deficiency that is characterized by acute inflammatory infiltrate and fat necrosis. Different treatment strategies are used to provide symptomatic relief. Here we describe two patie...

Vyas, S.; Yuoh, G., 1996: Liver cirrhosis and abnormally low serum levels of alpha-1 antitrypsin in the absence of alpha-1 antitrypsin deficiency. Modern Pathology 9(1): 138A

Clausen, P.P.; Lindskov, J.; Gad, I.; Kreutzfeldt, M.; Orholm, M.; Reinicke, V.; Larsen, H.R.; Strøm, P., 1984: The diagnostic value of alpha 1-antitrypsin globules in liver cells as a morphological marker of alpha 1-antitrypsin deficiency. In order to determine the diagnostic value of alpha 1-antitrypsin (AAT) globules as a morphological marker of AAT-deficiency of the Pi-Z type, liver needle biopsies from a prospective series of 600 patients were stained with PAS after pretreatment...

Anonymous, 1975: Alpha-1-antitrypsin deficiency--liver disease. Nutrition Reviews 33(6): 189-190

Millward-Sadler, G.H., 1981: Alpha-1-antitrypsin deficiency and liver disease. Acta Medica Portuguesa: 91-102