Il deficit di α1-antitripsina: Lo studio clinico di Brescia

Translated title of the contribution: α1-Antitrypsin deficiency. The Brescia (Italy) clinical study

Laura Pini, Luciano Corda, Mario Malerba, Alessandro Montanelli, Gian Mario Favagrossa, Arturo Terzi, Nadia Marcobruni, Mauro Magoni, Diego Franchini, Alessandro Radaeli, Claudio Tantucci, Vittorio Grassi

Research output: Contribution to journalArticlepeer-review

Abstract

In a longitudinal clinical study, two hundred subjects have been evaluated in order to identify α1-antitrypsin deficiency patients. According to their serum α1-antitrypsin levels, they have been divided into three groups: 25 patients with severe deficiency (with both pathological alleles - ZZ, SZ or Z and rare deficiency allele - and, if clinically suggested, to be treated with augmentation therapy), 92 patients with intermediate deficiency (with one pathological allele, to be followed up in order to evaluate the risk to develop deficiency related disease) and 63 healthy subjects (normal alleles MM). They performed lung function test (including cardiopulmonary exercise test and methacholine bronchial challenge) chest X-ray and high resolution computed tomography, blood tests. Severe deficiency patients also performed perfusional lung scan to detect early disorders of blood flow, evaluation of arterial blood gases and liver echotomography. Expiratory flow limitation, the prevalence of vascular disease, the amount of urine elastine products and correlations beetween the amount of nitric oxide exhaled and bronchial hyperresponsiveness have been also investigated. The study showed that in Brescia county the deficiency is more common than expected and that evaluation of liver and vessels might be as useful as lung function tests. In addition, beneficial effect on local system has been observed. The longitudinal study might permit to detect early organ damage and to eliminate additive risk factors.

Translated title of the contributionα1-Antitrypsin deficiency. The Brescia (Italy) clinical study
Original languageItalian
Pages (from-to)352-361
Number of pages10
JournalRecenti Progressi in Medicina
Volume91
Issue number7-8
Publication statusPublished - Jul 2000

ASJC Scopus subject areas

  • Medicine(all)

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