Analise dos alelos S e Z da alfa 1 antitripsina em uma amostra de pacientes fibrocisticos

AUTOR(ES)

Elizangela Jacinto de Faria

DATA DE PUBLICAÇÃO

2002

RESUMO

Cystic fibrosis is a genetic disorder that during its course presents mainly pulmonary and pancreatic manifestations. Its genotype-phenotype correlation has motivated many arduous studies. The only correlation so far encountered is with pancreatic insufficiency. It has also been noted that the course of the disease as well as the severity of its pulmonary manifestations did not demonstrate correlation with CFTR genotype. Alpha 1 antitripsin inhibits the proteases that realese inflammatory reactions of the plasma. Its most important inhibitory role is it action against leukocytic elastase. As the deficiency of alpha 1 antitripsin has relevant pulmonary manifestations and is very common in the area, we believe that it may be able to modulate pulmonary manifestations in fibrocystic patients. Ali the patients in the study were clinically and radiologically evaluated in accordance with their clinical evolution, pulmonary function and oxygen saturation tests. Out of the 70 patients evaluated, 17 patients had two alleles for the Δ F 508 mutation, 26 patients had one aliele for the Δ F 508 mutation and 27 patients did not present the Δ F 508 mutation. Among the fibrocystic patients, seven patients presented one S allele (10%), one patient presented one Z allele (1.43%) and one patient presented the two Z alleles (1.43%). The common MS, SS, MZ genotypes of A1AT deficiency that cause discreet to moderate protein deficiency are not associated with lung disease deterioration in patients with cystic fibrosis.

ASSUNTO(S)

enzimas proteoliticas genetica molecular genetica medica fibrose cistica genetica humana inibidores enzimaticos

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