alpha 1 antitrypsin deficiency(redirected from MIM 107400)
alpha 1 antitrypsin deficiencyAn 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.