German researchers from University of Munich recently identified a genetic mutation in the SERPINA-1 gene linked to alpha-1 antitrypsin deficiency in a patient previously diagnosed with COPD and being treated for bronchiectasis.
According to their research published in the International Journal of Chronic Obstructive Pulmonary Disease, the patient had the first known SERPINA-1-associated alpha-1 antitrypsin deficiency due to a mutation in exon 2 of the gene.
By recognizing a new cause of disease, the researchers may be better prepared for diagnosing future patients who present with these symptoms but with none of the typical gene mutations.
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