الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 106 |  |  |
| | | from | 106 | | |
Abstract
Alpha -1-antitrypsin deficiency (AATD) is a genetic disorder characterized by low serum levels of AAT. Low plasma and alveolar concentrations in human body predispose individuals to development of early - onset pulmonary disease, most commonly, emphysema ,COPD and bronchiectasis. Although it is one of the most common inherited conditions , it is under diagnosed . (Luisetti and , Seersholm ,2004).
The study was done at chest department of Sohag University Hospital from April 2010 to june 2011 and included 120 patients with COPD and /or bronchiectasis.
The patients categorized in four groups:
30 cases with COPD whose onset of disease start above age of 40 .
30 cases with COPD whose onset of disease start below age of 40.
30 cases with bronchiectasis with emphysema .
30 cases with bronchiectasis without emphysema.
The results of the study showed that alpha 1 antitrypsin deficiency is more important in COPD patients whose onset of disease start below age of 40 , as the results of the study showed that 4 patients of COPD below 40 had alpha 1 antitrypsin deficiency compared to 1 patient of COPD above 40 have had the disease.
Also showed that , alpha 1 antitrypsin deficiency is a possible cause of bronchiectasis wheather associated with emphysema or not , as our studty reveal, 2 patients were alpha 1 antitrypsin deficient in group of bronchiectasis without emphysema , and 1 patient was deficient in group bronchiectasis with emphysema.
There is strong relationship between the age of the patient and A1AT deficiency ,more common in younger age . There is also significant relationship between the family history of COPD or bronchiectasis and A1AT deficiency .
Alpha 1 antitrypsin phenotyping not done in the present study, while the serum levels of alpha 1 antirrypsin indirectly reflect that ” the homozygous “Z” allele is not the commonest deficiency allele in our geographical area , but the heterozygous alleles M,S,Z and homozygous S allele is the more prevalent .
The recommendations are:
1-Large scale- nation based screening for AAT deficiency in our country , with a large population of COPD patients and low awareness among care-givers about this genetic condition may be recommended, however the cost effectiveness of this action needs to be considered .
2- Physicians should suspect that their patient may be more likely to have AAT deficiency in:
-Early-onset emphysema (age at onset of disease 40 years or less)
-Family history of emphysema or bronchiectasis
-Bronchiectasis without evident etiology.
3- Rising the awarness among care givers about this genetic condition , as alpha 1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed .
4- modification of life style as smoking cessation in patients with alpha 1 antitrypsin deficiency postpone the pulmonary manifestations by about 10 years.