Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0(Heidelberg)

The clinical characterization of a null variant of SERPINA1 - PiQ0(Heidelberg) - 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.

• Presotto, M. A.
• Veith, M.
• Trinkmann, F.
• Schlamp, K.
• Polke, M.
• Eberhardt, R.
• Herth, F.
• Trudzinski, F. C.