Abstract
Alpha-1-antitripsyn neutralizes the tissue damaging effects of proteases. Alpha-1-antitripsyn deficiency manifests with necrotizing vasculitis. Wegener's granulomatosis is a systemic necrotizing vasculitis that uncommonly affects the gut. The molecular genetics of patients with Wegener's granulomatosis of the gastrointestinal tract have never been characterized. A 63-year-old man with emphysema was admitted with a fever of unknown origin. Initially, this fever was linked to ileocolic Crohn's disease and later attributed to antineutrophil cytoplasm antibody-positive systemic vasculitis. Genetic analysis revealed that the alpha-1-antitripsyn deficiency was due to a previously unreported compound heterozygosity for two mutations (PiZ and PiMProcida). Our findings appear to support the concept that severe alpha-1-antitripsyn deficiency is implicated in the pathogenesis of the Crohn's disease-like milder intestinal manifestations belonging to the spectrum of Wegener's granulomatosis.
Original language | English |
---|---|
Pages (from-to) | 1389-1392 |
Number of pages | 4 |
Journal | European Journal of Gastroenterology and Hepatology |
Volume | 14 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 1 2002 |
Keywords
- Alpha-1-antitrypsin deficiency
- ANCA
- Emphysema
- Fever of unknown origin
- Ileocolic Crohn's disease
- PiM
- PiZ
- Renal failure
- Systemic vasculitis
- Wegener's granulomatosis
ASJC Scopus subject areas
- Gastroenterology