alpha 1 antitrypsin deficiency


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alpha 1 antitrypsin deficiency

An inherited condition (frequency, ±1:10,000) characterised by low or absent production of alpha-1 antitrypsin, an enzyme which is critical to tissue remodelling.
Clinical findings The PiZZ phenotype is characterised by early-onset emphysema and liver-related symptoms, including jaundice, cholestasis, fatigue, cirrhosis, liver failure, ascites, panniculitis, mental changes, GI bleeding, and increased risk of primary liver cancer.
Genetics The A1AT gene is co-dominantly inherited and located on chromosome 14. It encodes 25 different allelic forms, which are classified according to electrophoretic mobility, of which the PiMM phenotype is normal; the most common A1AT deficiency phenotype is PiZZ.
Management IV or nebulised prolastin if COPD (chronic obstructive pulmonary disease), for direct delivery to lungs; alpha-1 proteinase inhibitor; O2, antibiotics, phenobarbital or cholestyramine for jaundice and itching, liver transplant.
References in periodicals archive ?
A hereditary condition known as Alpha 1 Antitrypsin Deficiency is causing her lungs to deteriorate.
But it won't cure her of Alpha 1 Antitrypsin Deficiency, which has also affected her liver.
Alpha 1 proteinase inhibitor is intended for therapy of congenital alpha 1 antitrypsin deficiency, which leads to emphysema.
It is estimated that there are 60,000 to 100,000 Americans with severe alpha 1 antitrypsin deficiency.
Ongoing Phase II Trial Tests Ability to Deliver Sustainable Treatment in Patients with Alpha 1 Antitrypsin Deficiency (AAT) Using Proprietary AAV Technology
Applied Genetic Technologies Corporation, a privately-held, clinical stage biotechnology company developing novel systems to deliver human therapeutics, announces that it has received a grant of $1 million from the Food and Drug Administration (FDA Orphan Drugs Program) to fund a Phase II Human Clinical Trial evaluating the safety and efficacy of a treatment for Alpha 1 Antitrypsin Deficiency (AAT), a genetic disease known to result in serious lung and/or liver disease.
Stakeholder Opinions: Alpha 1 Antitrypsin Deficiency
Assess the potential for new drugs and their potential for additional usesGain an understanding of some of the principal challenges in the treatment of alpha 1 antitrypsin deficiency as defined by key opinion leaders.