Alpha-1 Antitrypsin Deficiency

?1-antitrypsin deficiency is defined as a hereditary shortage of a primary lung antiprotease, the ?1-antitrypsin, which leads to an increased proteolytic tissue damage and emphysema in adults. The hepatic accumulation of pathological ?1-antitrypsin can result in children and adults to liver disease. An ?1-antitrypsin levels <11 micromol / l (80 mg / dl) in the blood proves the diagnosis. The therapy includes smoking cessation, bronchodilators, early treatment of infections and in selected cases, the substitution of ?1-antitrypsin. Severe liver disease can make a transplant necessary. The prognosis depends mainly on the extent of lung injury.

?1-antitrypsin deficiency is defined as a hereditary shortage of a primary lung antiprotease, the ?1-antitrypsin, which leads to an increased proteolytic tissue damage and emphysema in adults. The hepatic accumulation of pathological ?1-antitrypsin can result in children and adults to liver disease. An ?1-antitrypsin levels <11 micromol / l (80 mg / dl) in the blood proves the diagnosis. The therapy includes smoking cessation, bronchodilators, early treatment of infections and in selected cases, the substitution of ?1-antitrypsin. Severe liver disease can make a transplant necessary. The prognosis depends mainly on the extent of lung injury. Pathophysiology ?1-antitrypsin is an inhibitor of neutrophil elastase (an anti-protease) whose main function is to protect the lungs to tissue destruction by proteases. Most of the ?1-antitrypsin is synthesized in hepatocytes and monocytes and passively diffuses to the bloodstream to the lungs; a smaller proportion is secondarily produced by alveolar macrophages and epithelial cells. The protein structure (and thus functionality) and quantity of the circulating ?1-antitrypsin is determined by codominant expression of the parental alleles; > 90 different alleles have been based on the protease inhibitor (PI *) – phenotypes have been identified and described. Liver Inheritance some allelic variants causes a conformational change of the ?1-antitrypsin molecule, which leads to polymerization and retention in the hepatocytes. The hepatic accumulation of pathological ?1-antitrypsin molecules causes a neonatal cholestatic jaundice in 10-20% of patients; the others are likely to be able to reduce the pathological protein, the exact protective mechanism is unclear. In about 20% of cases, neonatal liver involvement leads to cirrhosis in childhood. About 10% of patients (n. D. Talk .: Recent studies have even 30-40%) without childhood liver disease develop cirrhosis during adulthood. Hepatic involvement increases the risk of Leberzellkarzinoms.Lunge In the lungs of ?1-antitrypsin deficiency leads to increased activity of neutrophil elastase, which facilitates tissue destruction and emphysema leads (especially in smokers, because cigarette smoke also increases the protease activity). ?1-antitrypsin deficiency is blamed for an estimated 1-2% of all COPD cases. The ?1-antitrypsin deficiency leads most often to premature emphysema; Symptoms and signs of pulmonary involvement occur in smokers earlier than non-smokers, but are rare in both cases before the age of 25. Some patients with bronchiectasis have an ?1-antitrypsin deficiency auf.Andere tissue Other disorders that may be associated with ?1-antitrypsin alleles variants are Panniculitis (an inflammatory disease of the subcutaneous tissue), life-threatening bleeding (caused by a mutation that ?1-antitrypsin by a neutrophil elastase in a inhibitor of blood coagulation factors converts), aneurysms, ulcerative colitis, antineutrophile- cytoplasmic antibody (ANCA) -positive vasculitis, and Glomeruluserkrankungen. Pannikulitis © Springer Science + Business Media var model = {thumbnailUrl: ‘/-/media/manual/professional/images/467-panniculitis-slide-7-springer-high_de.jpg?la=de&thn=0&mw=350’ imageUrl: ‘/-/media/manual/professional/images/467-panniculitis-slide-7-springer-high_de.jpg?la=de&thn=0’, title: ‘Pannikulitis’ description:’ u003Ca id = “v38395420 “class = ” anchor “” u003e u003c / a u003e u003cdiv class = “” para “” u003e u003cp u003eDiese figure shows violet infiltrated plaques of the anterior-medial aspect of the thigh. u003c / p u003e u003c / div u003e ‘credits’ © Springer Science + Business Media’

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