Publications by authors named "Leonardo Iannacci"
Article Synopsis
- Alpha-1 Antitrypsin Deficiency (AATD) is linked to higher risks of lung and liver diseases, primarily associated with the common PI*ZZ genotype.
- Researchers studied patients with severe AATD from the Italian Registry for AATD, focusing on those with rare genotypes like PI*R.
- Results showed that patients with rare genotypes exhibited similar clinical characteristics and respiratory profiles to those with the PI*ZZ genotype, emphasizing the need for timely diagnosis of PI*R for effective management.
Alpha1-antitrypsin Deficiency (AATD) is a rare hereditary disorder with an estimated prevalence of about 1/5000 individuals in Italy. Deficient patients are at a higher risk of developing lung emphysema and chronic liver disease. The low estimated prevalence of AATD prompted the establishment of a registry with the aim of learning more about the natural history and the quality of care of these patients.
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