Alpha-1 antitrypsin deficiency
| Health specialty | endocrinology  |
|---|---|
| Genetic association | SERPINA1 |
| External data available at URL | http://www.nanbyou.or.jp/entry/4738 |
| ICD-9-CM | 273.4 |
| ICPC 2 ID | T99 |
| NCI Thesaurus ID | C84397 |
Alpha-1 antitrypsin deficiency (A1AD anaa AATD) be a genetic disorder wey fi result in lung disease anaa liver disease.[1] Onset of lung problems be typically between 20 den 50 years of age.[1] Dis fi result in shortness of breath, wheezing, anaa an increased risk of lung infections.[1][2] Complications fi include chronic obstructive pulmonary disease (COPD), cirrhosis, neonatal jaundice, anaa panniculitis.[1]
A1AD be secof a mutation insyd de SERPINA1 gene wey dey result in not enough alpha-1 antitrypsin (A1AT).[1] Risk factors for lung disease dey include tobacco smoking den environmental dust.[1] De underlying mechanism dey involve unblocked neutrophil elastase den buildup of abnormal A1AT insyd de liver.[1] 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.[1] Dem dey suspect de diagnosis based on symptoms wey blood tests anaa genetic tests dey confirm am.[2]
Treatment of lung disease fi include bronchodilators, inhaled steroids, den, wen infections occur, antibiotics.[2] Intravenous infusions of de A1AT protein anaa in severe disease lung transplantation sanso fi be recommended.[2] Insyd those plus severe liver disease liver transplantation fi be an option.[2][3] Dem dey recommend avoiding smoking.[2] Dem sanso dey recommend vaccination give influenza, pneumococcus, den hepatitis.[2] Life expectancy among those wey dey smoke be 50 years while among those wey no dey smoke be almost normal.[4]
De condition dey affect about 1 insyd 2,500 people of European descent.[1] Severe deficiency dey occur insyd about 1 insyd 5,000.[5] Insyd Asians e be uncommon.[1] Dem dey believe about 3% of people plus COPD get de condition.[5] Na dem first describe alpha-1 antitrypsin deficiency insyd de 1960s.[6]
References
[edit | edit source]- 1 2 3 4 5 6 7 8 9 10 "alpha-1 antitrypsin deficiency". Genetics Home Reference (in English). January 2013. Retrieved 12 December 2017.
- 1 2 3 4 5 6 7 "Alpha-1 antitrypsin deficiency". GARD (in English). 2016. Retrieved 12 December 2017.
- ↑ Clark, VC (May 2017). "Liver Transplantation in Alpha-1 Antitrypsin Deficiency". Clinics in Liver Disease. 21 (2): 355–365. doi:10.1016/j.cld.2016.12.008. PMID 28364818.
- ↑ Stradling, John; Stanton, Andrew; Rahman, Najib M.; Nickol, Annabel H.; Davies, Helen E. (2010). Oxford Case Histories in Respiratory Medicine (in English). OUP Oxford. p. 129. ISBN 978-0-19-955637-3.
- 1 2 Marciniuk, DD; Hernandez, P; Balter, M; Bourbeau, J; Chapman, KR; Ford, GT; Lauzon, JL; Maltais, F; O'Donnell, DE; Goodridge, D; Strange, C; Cave, AJ; Curren, K; Muthuri, S; Canadian Thoracic Society COPD Clinical Assembly Alpha-1 Antitrypsin Deficiency Expert Working Group (2012). "Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline". Canadian Respiratory Journal. 19 (2): 109–16. doi:10.1155/2012/920918. PMC 3373286. PMID 22536580.
{{cite journal}}: CS1 maint: numeric names: authors list (link) - ↑ Köhnlein, Thomas; Welte, T. (2007). Alpha-1 Antitrypsin Deficiency: Clinical Aspects and Management (in English). UNI-MED Verlag AG. p. 16. ISBN 978-1-84815-115-4.
External links
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