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 |
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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
Cite this
Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida). / Lonardo, Amedeo; Medicina, Daniela; Leonelli, Marco; Bagni, Alberto; Callea, Francesco.
In: European Journal of Gastroenterology and Hepatology, Vol. 14, No. 12, 01.12.2002, p. 1389-1392.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida)
AU - Lonardo, Amedeo
AU - Medicina, Daniela
AU - Leonelli, Marco
AU - Bagni, Alberto
AU - Callea, Francesco
PY - 2002/12/1
Y1 - 2002/12/1
N2 - 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.
AB - 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.
KW - Alpha-1-antitrypsin deficiency
KW - ANCA
KW - Emphysema
KW - Fever of unknown origin
KW - Ileocolic Crohn's disease
KW - PiM
KW - PiZ
KW - Renal failure
KW - Systemic vasculitis
KW - Wegener's granulomatosis
UR - http://www.scopus.com/inward/record.url?scp=0036923624&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036923624&partnerID=8YFLogxK
U2 - 10.1097/00042737-200212000-00017
DO - 10.1097/00042737-200212000-00017
M3 - Article
C2 - 12468963
AN - SCOPUS:0036923624
VL - 14
SP - 1389
EP - 1392
JO - European Journal of Gastroenterology and Hepatology
JF - European Journal of Gastroenterology and Hepatology
SN - 0954-691X
IS - 12
ER -