Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause
Year: 2025
Type: article
Study design: Case Report
Abstract: Bronchiectasis, defined as the permanent dilation of the bronchial wall, is a chronic inflammatory disease with nearly thirty known causes. The most common cause is recurrent and inadequately treated lower respiratory tract infections. Among the rarer causes is alpha-1 antitrypsin (AAT) deficiency, an anti-protease and anti-inflammatory protein deficiency. To date, approximately 500 variants of AAT deficiency have been identified, with the PI*S and PI*Z mutations being the most commonly associated with bronchiectasis. Here, we present a case diagnosed with bronchiectasis secondary to AAT deficiency during an advanced clinical workup, in which the rare Pi*M Palermo mutation was identified. This case is discussed in the context of the existing literature.
Source: Medeniyet Medical Journal
Institution: Istanbul Medeniyet University
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414590132