Jornal de Pediatria. Print version ISSN Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity. J. Pediatr. (Rio J.) [online]. , vol Alphaantitrypsin deficiency affects mainly the lungs and the liver leading, in the . RESUMO – Racional – A deficiência de alfaantitripsina é uma doença pelo ambulatório de Gastroenterologia Pediátrica da Universidade Estadual de. This report draws attention to the alpha 1 antitrypsin deficiency in newborns presented as a cholestatic syndrome. Its sub-diagnosis constitutes a major.

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La principal variante deficitaria es la PiZ.

Alphaantitrypsin deficiency AATD is the main genetic factor related to the development of emphysema. This protein has numerous variants, some of which are clinically relevant because their anomalous conformation implies that they fail to ceficiencia the target organs as they are polymerized in the hepatocyte.

Deficiência de alfa 1 antitripsina : relato de caso – Semantic Scholar

The main abnormal variant is PiZ. In a small percentage of individuals, the accumulation of Z polymers in the liver leads to the development of liver disease. The lack of AATD in the lung favors the development of emphysema, since the proteolytic effect of elastases — the main biological function of AATD — is not counteracted. The principal prognostic factor in these patients is forced expiratory volume in one second FEV 1which is affected mainly by exposure to tobacco smoke.

Thus, life expectancy in nonsmokers is similar to that in the general population while lung function decreases faster in smokers than in other patients fe chronic obstructive pulmonary disease COPD. The treatment of the lung disease is the same, although exogenous AATD augmentation is indicated when lung function deteriorates.

COPD and alphaantitrypsin deficiency.

Diagnosis of alphaantitrypsin deficiency by DNA analysis of children with liver disease

The treatment of the lung disease is the ds, although exogenous AATD augmentation is indicated when lung function deteriorates. The electrophoretic alphaglobulin pattern of serum in alphaantitrypsin deficiency. Scand J Clin Lab Invest, 15pp. Alphaantitrypsin polymerization and the serpinopathies: J Clin Invest,pp.


Thorax, 62pp. Alpha-1 antitrypsin inhibits the activity of the matriptasa catalytic domain in vitro. Alphaantitripsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. Am J Pathol,pp. Alphaantitrypsin binds to and interferes with functionally of EspB from atypical and typical enteropathogenic Escherichia coli strains.

Infect Immun, 72pp. Antagonistic effect of human alphaantitrypsin on excystation of Cryptosporidium parvum oocysts. J Parasitol, 83pp. Aerosolized prolastin supresses bacterial proliferation in a model of chronic Pseudomonas aeruginosa lung infection. AIDS Rev, 9pp. Biochem Biophys Res Comun,pp. Alphaantitrypsin exerts in vitro anti-inflammatory activity in humsan monocytes by elevating cAMP. Antjtripsina Biol Chem,pp.

Polymers of Z alphaantitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo. Molecular pathogenesis of alphaantitrypsin deficiency associated liver disease: Hepatology, 45pp.

Alphaantitrypsin mutant Z protein content in individual hepatocytes correlates anfitripsina cell death in a mouse model. Hepatology, 46pp. Effective treatment with alpha-1 inhibitor of chronic cutaneous vasculitis associated with alphaantitrypsin deficiency. Dficiencia Am Acad Dermatol, 33pp. Antitripsija associated with severe alpha-1antitrypsin deficiency.

Arch Dermatol,pp.

Influence of deficient alphaantitrypsin phenotypes on clinical characteristics and severity of asthma in adults. Respir Med, 96pp. Arch Bronconeumol, 42pp.

Eur Respir J, 27pp. Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alphaantitrypsin deficiency. J Med Genet, 42pp.

Med Clin Barc, pp. Clinical features and natural history of severe alphasntitrypsin deficiency. Chest,pp. Laboratory testing of individuals with severe AAT deficiency in Europe: Emphysema in non smokers: Cleve Cli J Med, 69pp. Relationship of chronic sputum expectoration to physiologic, radiological and health status characteristics in alphaantitrypsin deficiency PiZ. Pattern of emphysema distribution in alphaantitrypsin pediatrai influences lung function impairment. Acta Paediatr, 83pp. Survival of patients with severe AATD with special reference to non-index cases.

Thorax, 49pp. Thorax, 63pp. Outdoor air pollution is associated with disease severity in alphaantitrypsin deficiency. Eur Respir J, 34pp. Biochemical efficacy and safety of monthly augmentation therapy for alphaantitrypsin deficiency. JAMA,pp. Longitudinal follow-up of patients with alpha 1 -protease inhibitor deficiency before and eeficiencia therapy with iv alpha 1 -protease inhibitor. Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: The effect of augmentation therapy on bronchial inflammation in alphaantitrypsin deficiency.


Does alpha-1 antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary AAT deficiency? WATL alpha-1 study group.

Deficiência de alfa 1 antitripsina : relato de caso

Eur Respir J, 10pp. Survival and FEV 1 decline in individuals with severe deficiency ofalphaantitrypsin. Am J Crit Car Med,pp. A randomised study of augmentation therapy in alphaantirypsin deficiency: Respir Res, 10pp. Exploring the optimum approach to the use of CT densitometry in a randomised placebo-controlled study of augmentation therapy in alphaantitrypsin deficiency. Augmentation therapy for emphysema due to alphaantitrypsin deficiency. Ther Adv Respir Dis, 2pp.

De la Roza, B. Thorax, 61pp. Factors related to postoperative mortality in lung transplantation for emphysema. Transplant Proc, 39pp.

J Heart Lung Transplant, 25pp. Two years results after alf volume reduction surgery in alphaantitypsin versus smoker’s emphysema. Eur Respir J, 12pp. Lung volume reduction surgery for patients with alpha-1 antitrypsin deficiency emphysema.

Thorac Sur Clin, 19pp. De la Roza, F. Results of a case-detection programme for alpha-1 antitrypsin deficiency in COPD patients. Eur Respir J, 26pp. Emphysema due to alpha-1 antitrypsin deficiency: De la Roza, S. Development and results of the Spanish registry of patients with alpha-1 antitrypsin deficiency.

Ongoing research in Europe: Eur Respir J, 29ee.

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Last modified: July 30, 2020