ArticleMedeniyet medical journal2025
Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.
Article in Medeniyet medical journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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