2015, Number 2
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Rev Cub de Med Fis y Rehab 2015; 7 (2)
Clinical, functional and genetic studies in patients with pulmonary emphysema deficit of alpha-1 antitrypsin
Fernández FM, Jane LA, Marcheco TB, Lima AMI, Ortiz RJ
Language: Spanish
References: 10
Page: 201-208
PDF size: 176.87 Kb.
ABSTRACT
Introduction: Pulmonary emphysema alpha 1 antitrypsin deficiency is the most
common inherited respiratory disease in adulthood. The genetic factor associated
with this lack of protective enzyme in the lung, is the cause of the development of
emphysema.
Objective: To know the peculiarities of pulmonary emphysema 1antitripsina alpha
deficit with chronic obstructive pulmonary disease (COPD) and their frequency in
the population of young adults.
Development: The case of a female patient of 47 years old, diagnosed with COPD
despite appropriate treatment and total abandonment of smoking for more than 10
years, presented from this date, a progressive worsening clinical and lung function
which led to their valuation multiple hospitals in the city of Havana.
Results: The study of DNA to determine genotype was inconclusive, to obtain Pi ZZ
genotype, and affirm the presence of alpha-1 antitrypsin deficiency.
Conclusions: We demonstrate the presence of this rare entity and considered
thought in young adults with diagnostic of COPD.
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