Science and Research

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.

Keywords

  • Alpha1-antitrypsin
  • Alpha1-antitrypsin deficiency
  • Chronic obstructive pulmonary disease
  • PiQ0Heidelberg
  • Serpina1
Publication details
DOI: 10.1016/j.rmcr.2021.101570
Journal: Respir Med Case Rep
Pages: 101570 
Work Type: Original
Location: TLRC, UGMLC
Disease Area: COPD
Partner / Member: Thorax, UMR
Access-Number: 35028284

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