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). 2002

Amedeo Lonardo, and Daniela Medicina, and Marco Leonelli, and Alberto Bagni, and Francesco Callea
Division of Internal Medicine and Gastroenterology, Modena City Hospital, Italy. a.lonardo@libero.it

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.

UI MeSH Term Description Entries
D007079 Ileitis Inflammation of any segment of the ILEUM and the ILEOCECAL VALVE.
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011656 Pulmonary Emphysema Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions. Emphysema, Pulmonary,Centriacinar Emphysema,Centrilobular Emphysema,Emphysemas, Pulmonary,Focal Emphysema,Panacinar Emphysema,Panlobular Emphysema,Pulmonary Emphysemas,Centriacinar Emphysemas,Centrilobular Emphysemas,Emphysema, Centriacinar,Emphysema, Centrilobular,Emphysema, Focal,Emphysema, Panacinar,Emphysema, Panlobular,Emphysemas, Centriacinar,Emphysemas, Centrilobular,Emphysemas, Focal,Emphysemas, Panacinar,Emphysemas, Panlobular,Focal Emphysemas,Panacinar Emphysemas,Panlobular Emphysemas
D003092 Colitis Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. Colitides
D003424 Crohn Disease A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients. Colitis, Granulomatous,Enteritis, Granulomatous,Enteritis, Regional,Ileitis, Regional,Ileitis, Terminal,Ileocolitis,Crohn's Disease,Crohn's Enteritis,Inflammatory Bowel Disease 1,Regional Enteritis,Crohns Disease,Granulomatous Colitis,Granulomatous Enteritis,Regional Ileitides,Regional Ileitis,Terminal Ileitis
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014890 Granulomatosis with Polyangiitis A multisystemic disease of a complex genetic background. It is characterized by inflammation of the blood vessels (VASCULITIS) leading to damage in any number of organs. The common features include granulomatous inflammation of the RESPIRATORY TRACT and KIDNEYS. Most patients have measurable autoantibodies (ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES) against MYELOBLASTIN. Granulomatosis, Wegener's,Wegener Granulomatosis,Wegener's Granulomatosis,Granulomatosis with Polyangiitides,Granulomatosis, Wegener,Polyangiitides, Granulomatosis with,Polyangiitis, Granulomatosis with,with Polyangiitides, Granulomatosis,with Polyangiitis, Granulomatosis

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