alpha 1-Antitrypsin Deficiency (alpha 1 Antitrypsin Deficiency)

04/23/1987 - "We evaluated the feasibility, safety, and biochemical efficacy of intermittent infusions of alpha 1-antitrypsin in the treatment of patients with alpha 1-antitrypsin deficiency. "
01/01/1983 - "Increased intestinal clearance of alpha 1-antitrypsin in patients with alpha 1-antitrypsin deficiency."
03/14/1983 - "The study group included 59 PI type Z patients with alpha 1-antitrypsin deficiency, five with the rare alpha 1-antitrypsin null genotype (PI Q0 or --), and seven with alpha 1-antitrypsin deficiency of the rare PI types MmaltonZ or MduarteZ. "
01/01/2012 - "Serum from 15 patients with documented alpha 1-antitrypsin deficiency, some of whom were receiving alpha 1-antitrypsin augmentation therapy, and four normal volunteers was analyzed. "
12/01/1996 - "This report describes the clinical characteristics of a group of 59 individuals with the PI*SZ phenotype and alpha 1-antitrypsin (alpha 1-AT) deficiency, identified during recruitment of a registry for subjects with severe alpha 1-antitrypsin deficiency. "

02/01/1980 - "A matched-pair study of the leukocyte elastase-like activity in normal persons and in emphysematous patients with and without alpha 1-antitrypsin deficiency."
01/01/2000 - "alpha 1-Antitrypsin deficiency is a model disorder resulting in an insufficient control of leukocyte elastase with a subsequent alveolar tissue damage. "
02/01/1980 - "In persons without alpha 1-antitrypsin deficiency, however, the leukocyte elastase-like activity may be a contributing factor in the development of this disease. "
02/01/1980 - "In 16 emphysematous patients without alpha 1-antitrypsin deficiency (PiMM) however, the leukocyte elastase-like activity tended to be higher than that of normal control subjects. "
01/01/1990 - "The importance of the destructive element in emphysema and the gradual focusing on neutrophil elastase as a key enzyme in the pathogenesis of emphysema in alpha 1-antitrypsin deficiency is emphasized. "

03/14/1983 - "alpha 2-Macroglobulin in patients with obstructive lung disease, with and without alpha 1-antitrypsin deficiency."
10/01/1981 - "These studies demonstrated that: (a) alpha 1-antitrypsin is the major antielastase of the normal human lower respiratory tract; (b) alpha 2-macroglobulin, a large serum antielastase, and the bronchial mucous inhibitor, an antielastase of the central airways, do not contribute to the antielastase protection of the human alveolar structures; (c) individuals with PiZ alpha 1-antitrypsin deficiency have little or no alpha 1-antitrypsin in their lower respiratory tract and have no alternative antiprotease protection against neutrophil elastase; and (d) the lack of antiprotease protection of the lower respiratory tract of PiZ individuals is a chronic process, suggesting their vulnerability to neutrophil elastase is always present."

09/01/1988 - "Rapid DNA analysis of alpha 1-antitrypsin deficiency: application of an improved method for amplifying mutated gene sequences."
10/01/1991 - "A method for detection of the M and Z alleles of the alpha 1-antitrypsin deficiency (AAT) gene has been developed using denaturing gradient gel electrophoresis (DGGE) of DNA samples amplified in vitro by the polymerase chain reaction. "
08/01/1990 - "[Analysis of alpha 1-antitrypsin deficiency using DNA methods]."
09/12/1988 - "Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products."
07/01/1994 - "Furthermore, the common alpha 1-antitrypsin deficiency allele, PI*Z, has a unique DNA haplotype at the CBG, PIL, and PI loci, which extends over 60 kb in 97% of cases and in 44% of cases includes the PCI and AACT loci. "

07/01/1992 - "Iron, copper and alpha 1-antitrypsin deficiency in the liver of cirrhotic and schistosomotic patients."
01/01/1996 - "Immunostaining for hepatitis B antigens, for alpha-1-antitrypsin and copper staining are helpful in detecting hepatitis B and congenital liver diseases (Wilson's disease, alpha-1-antitrypsin deficiency) as possible causes of chronic progressive inflammatory liver disease. "

01/01/1996 - "Immunostaining for hepatitis B antigens, for alpha-1-antitrypsin and copper staining are helpful in detecting hepatitis B and congenital liver diseases (Wilson's disease, alpha-1-antitrypsin deficiency) as possible causes of chronic progressive inflammatory liver disease. "

10/01/2013 - "It is generally agreed that the protease inhibitor (PI) alleles PI*S (Val264Glu) and PI*Z (Lys342Glu) are the most common alpha 1 antitrypsin deficiency variants worldwide, but the PI*Mmalton allele (ΔPhe52) prevails over these variants in some Mediterranean regions. "
09/01/1997 - "Further investigation demonstrated a homozygous Z phenotype, the classic protease inhibitor variant described in alpha 1-antitrypsin deficiency. "
01/01/1989 - "[The protease inhibitor system in children (in diseases of the lung, liver and hereditary alpha 1-antitrypsin deficiency)]."
10/01/1981 - "To directly assess the antiprotease side of this equation, the lower respiratory tract of non-smoking individuals with normal serum antiproteases and individuals with PiZ homozygous alpha 1-antitrypsin deficiency underwent bronchoalveolar lavage to evaluate the antiprotease screen of their lower respiratory tract. "
10/01/1979 - "Using a case-control design, our cases included 37 heterozygotes for alpha 1-antitrypsin deficiency, protease inhibitor phenotypes MZ and MS, selected because they were parents of children with homozygous alpha 1-antitrypsin deficiency identified in a statewide newborn screening program between 1971 and 1974. "

10/01/2014 - "Alpha 1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease linked to a mutation of the SERPINA1 gene localized to chromosome 14q32. "
01/01/2010 - "Cardiovascular and musculskeletal co-morbidities in patients with alpha 1 antitrypsin deficiency."
12/01/1994 - "The aim of the present study was to determine the prevalence of hepatocellular carcinoma in adults with heterozygous alpha 1-antitrypsin deficiency and to assess the presence of possible co-risk factors for the development of hepatocellular carcinoma. "
12/01/2002 - "Low levels of nitric oxide and carbon monoxide in alpha 1-antitrypsin deficiency."
01/01/2007 - "Finally, we found that the co-existence of both C282Y HFE and Z alpha 1-antitrypsin protein (the protein associated with the liver disease of Z alpha 1-antitrypsin deficiency) expression on ER stress responses acted as potential disease modifiers with respect to each other. "

08/01/1993 - "The relationship between alpha 1-antitrypsin deficiency (alpha 1-ATD) and the HLA antigen system was studied in 32 liver transplant recipients. "
08/01/1993 - "Lack of association between HLA antigen DR3 and alpha 1-antitrypsin deficiency in liver transplant recipients."
04/01/1990 - "There is some evidence of a protective effect of breast-feeding, and a recent study has found the HLA class II DR3 antigen to be more common than expected in children with alpha 1-antitrypsin deficiency and liver disease. "
01/01/1998 - "Reports on hereditary alpha 1-antitrypsin deficiency, the link between systemic vasculitis and human leukocyte antigen molecules, and an animal model of spontaneous granulomatous arteritis in mice with a hereditary deficit in Fas-mediated apoptosis, are some of the new data that strongly favor genetic predisposition. "
02/01/1997 - "ANCA-positive vasculitis and alpha 1-antitrypsin deficiency: could free ANCA antigens released by neutrophils mediate vasculitic lesions?"

02/01/1993 - "A range of 72 blinded children's sera (36 boys), aged six months to 21 years (10 primary sclerosing cholangitis, eight autoimmune chronic active hepatitis, 10 alpha-1 antitrypsin deficiency, 12 extrahepatic bile duct atresia, 11 ulcerative colitis and 21 normal subjects) was assayed. "
05/01/1991 - "Alpha 1-antitrypsin deficiency, primary sclerosing cholangitis, idiopathic hemochromatosis, and chronic autoimmune hepatitis may result in advanced cirrhosis in the elderly; appropriate serum studies should be obtained. "
08/01/1990 - "Hepatocytes were obtained from 76 children: 10 with autoimmune chronic active hepatitis, nine with primary sclerosing cholangitis, nine with chronic hepatitis B virus infection, five after liver transplantation, 19 with extrahepatic biliary atresia, 11 with alpha 1-antitrypsin deficiency, four with idiopathic neonatal hepatitis and nine with histologically normal liver. "
12/01/1992 - "The portal tract mononuclear cell infiltrate has been characterised in 28 liver biopsy samples showing features of chronic aggressive hepatitis from 12 patients with autoimmune chronic active hepatitis, 12 with primary sclerosing cholangitis, and four with other chronic liver diseases (two with alpha 1-antitrypsin deficiency, one with Wilson's disease, and one with chronic hepatitis B infection). "

08/01/1999 - "Three patients had meconium ileus, including one infant with concomitant alpha(1) antitrypsin deficiency, who required early liver transplantation. "
03/01/1995 - "Alpha 1-antitrypsin deficiency is the most common genetic cause of liver disease in infants and children and is the most common genetic disease for which liver transplantation is indicated. "
06/01/1994 - "This case report describes a child who became infected by HCV after liver transplantation for end-stage liver disease caused by alpha 1-antitrypsin deficiency. "
01/01/1994 - "[Advanced liver cirrhosis secondary to heterozygote alpha 1-antitrypsin deficiency in a young woman: treatment by liver transplantation]."
08/01/1991 - "A 5.7 year old boy with alpha 1-antitrypsin deficiency developed intractable ascites after liver transplantation. "

09/01/2011 - "Long-term outcome in 42 pediatric liver transplant patients with alpha 1-antitrypsin deficiency: a single-center experience."
03/01/2010 - "Alpha 1 antitrypsin deficiency is corrected with hepatic replacement; however, the changes in pulmonary functions have not been studied before and after liver transplant. "
03/01/2010 - "Effect of liver transplant on pulmonary functions in adult patients with alpha 1 antitrypsin deficiency: 7 cases."
01/01/1991 - "It is concluded that the medium-term results of heart and lung transplantation for treatment of emphysema are good and that patients with alpha 1-antitrypsin deficiency may undergo transplant procedures without substitution therapy."
01/01/2014 - "In this case report, we describe a cirrhotic patient with alpha 1 antitrypsin deficiency and nonhereditary hemochromatosis (non-HFE) that developed cardiogenic shock requiring mechanical circulatory support for twenty days after liver transplant. "

01/01/1992 - "Case study: single lung transplantation for alpha 1-antitrypsin deficiency."
11/01/1997 - "We had the unique opportunity to investigate a 51-yr-old never-smoker after single lung transplantation (TX) for alpha 1-antitrypsin deficiency emphysema who received a donor's lung from a heavy cigarette smoker. "
12/01/1996 - "Lung transplantation is an option for appropriately selected patients with end-stage emphysema caused by alpha 1-antitrypsin deficiency. "
12/01/1996 - "Lung transplantation for alpha 1-antitrypsin deficiency emphysema."
11/01/1994 - "In conclusion, the two year mortality of emphysema patients due to alpha 1-antitrypsin deficiency increases exponentially with decreasing FEV1 and the results imply that only a few patients who underwent lung transplantation would have had a better two year prognosis without this procedure."

09/01/2011 - "We examined the long-term outcome of transplantation for alpha 1-antitrypsin deficiency (A1ATD). "
01/01/1992 - "Univariate (unadjusted) analyses detected significant differences in survival for age (the youngest recipients had the worst survival), UNOS description (poorer functional status just prior to transplantation led to poorer survival), and primary liver disease (survival was worst for recipients transplanted due to fulminant liver failure, and best for patients with alpha-1 antitrypsin deficiency).(ABSTRACT TRUNCATED AT 400 WORDS)"
08/01/1993 - "The relationship between alpha 1-antitrypsin deficiency (alpha 1-ATD) and the HLA antigen system was studied in 32 liver transplant recipients. "
08/01/1993 - "Lack of association between HLA antigen DR3 and alpha 1-antitrypsin deficiency in liver transplant recipients."
08/01/1993 - "Indications for transplantation were: biliary atresia (9), Byler's disease (1), tyrosinemia (3), and alpha 1-antitrypsin deficiency (1). "

05/29/1989 - "The case reports of the first two Danes (both with emphysema secondary to alpha-1-antitrypsin deficiency) who underwent successful heart-lung transplantations in England are presented. "
03/31/1994 - "The diagnoses were: emphysema (n = 5), idiopathic pulmonary fibrosis (n = 5), emphysema in alpha 1-antitrypsin deficiency (n = 1), mucoviscidosis (n = 1), drug-induced fibrosis (n = 1), chronic lung rejection after heart-lung transplantation (n = 1), secondary pulmonary hypertension with persistent ductus arteriosus (n = 1), sarcoidosis (n = 1) and chronic transplant failure after unilateral transplantation (n = 1). "