Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0Heidelberg. (2022)

• Record Type: Journal Article
• Authors: Presotto, Maria A.; Veith, Martina; Trinkmann, Frederik; Schlamp, Kai; Polke, Markus; Eberhardt, Ralf; Herth, Felix; Trudzinski, Franziska C.
• Is Part Of: Respiratory medicine case reports. Volume 35(2022)
• Publication Date: 2022
• Subjects: Chronic obstructive pulmonary disease -- Alpha1-antitrypsin -- Alpha1-antitrypsin deficiency -- SERPINA1 -- PiQ0Heidelberg; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2021.101570
• Languages: English
• ISSNs: 2213-0071

Abstract

Abstract: The clinical characterization of a null variant of SERPINA1 – PiQ0Heidelberg – resulting in alpha1-antitrypsin (AAT) deficiency is described. This rare mutation (c.-5+5 G > A) has been previously identified but not clinically described. The 77 year-old female patient had GOLD-3, Group B COPD, severe destructive panlobular emphysema and newly observed respiratory failure on exertion at the time the genetic analysis was performed. Serum AAT level was 0.1 g/L (reference 0.9–2.0 g/L). Isoelectric focusing showed only the Z-protein indicating that this was a null mutation. The patient has started AAT replacement. Early screening and identification of AAT deficiency would allow for earlier intervention.