Alpha-1-Antitrypsin Deficiency: A Case of a Two-year Old Boy with Inherited Disease

Abstract

Alpha-1-antitrypsin (AAT) is a protease inhibitor which plays an important role of protector of the lung tissues against the proteolytic effect of elastase secreted from neutrophils. Its deficiency is associated with liver disease in children and emphysema in adults. So far, more than 75 variants of this protein are defined, but most of the cases of AAT deficiency are caused by homozygosis for the deficient allele PIZ or by heterozygous combination of the 2 most common deficient alleles, PIS and PIZ. A diagnosis in the case of a suspicion of AAT deficiency is carried out by measuring the alpha-1 antitrypsin level in blood and by genotyping the alpha-1 antitrypsin alleles. The importance of early diagnosis resides in the possibility of undergoing a lifestyle modification (such as vigorous smoking cessation, for example) and treatment of pulmonary disease thus significantly decreasing the morbidity. The family studying is important to identify individuals at high risk, and initiation of AAT replacement therapy in individuals. Having in mind the underdiagnosis of this disease, we hope to contribute with this case report to the medical community in Republic of Macedonia to raise the awareness of this disease, and also of the possibilities of exact diagnosis.