Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (A1AD anaa AATD) be a genetic disorder wey fi result in lung disease anaa liver disease. Onset of lung problems be typically between 20 den 50 years of age. Dis fi result in shortness of breath, wheezing, anaa an increased risk of lung infections. Complications fi include chronic obstructive pulmonary disease (COPD), cirrhosis, neonatal jaundice, anaa panniculitis.

A1AD be secof a mutation insyd de SERPINA1 gene wey dey result in not enough alpha-1 antitrypsin (A1AT). Risk factors for lung disease dey include tobacco smoking den environmental dust. De underlying mechanism dey involve unblocked neutrophil elastase den buildup of abnormal A1AT insyd de liver. E be autosomal co-dominant, wey dey mean say one defective allele dey tend to result in milder deficiency dan two defective alleles; for example, carriers plus an MS (anaa SS) allele combination usually dey produce enough alpha-1 antitrypsin to protect de lungs, while those plus MZ alleles get a slightly increased risk of impaired lung anaa liver function. Dem dey suspect de diagnosis based on symptoms wey blood tests anaa genetic tests dey confirm am.

Treatment of lung disease fi include bronchodilators, inhaled steroids, den, wen infections occur, antibiotics. Intravenous infusions of de A1AT protein anaa in severe disease lung transplantation sanso fi be recommended. Insyd those plus severe liver disease liver transplantation fi be an option. Dem dey recommend avoiding smoking. Dem sanso dey recommend vaccination give influenza, pneumococcus, den hepatitis. Life expectancy among those wey dey smoke be 50 years while among those wey no dey smoke be almost normal.

De condition dey affect about 1 insyd 2,500 people of European descent. Severe deficiency dey occur insyd about 1 insyd 5,000. Insyd Asians e be uncommon. Dem dey believe about 3% of people plus COPD get de condition. Na dem first describe alpha-1 antitrypsin deficiency insyd de 1960s.

 References 

 External links 

 Alpha-1-antitrypsin deficiency on Orphanet

Category:Diseases of liver
Category:Serpinopathies
Category:Lung disorders
Category:Hepatology
Category:Translated from MDWiki