Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis
| Autor: | Arnold C, Ammann Rw, Wirth Hp, Kaspar Truninger, von Weizsäcker F, Beat Muellhaupt, Josef Köck, Hubert E. Blum, Burkhardt Seifert |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Pancreatic disease Trypsinogen Endocrinology Diabetes and Metabolism DNA Mutational Analysis Gene mutation medicine.disease_cause Gastroenterology Polymerase Chain Reaction Pathogenesis chemistry.chemical_compound Endocrinology Recurrence Internal medicine Internal Medicine medicine Humans Trypsin Child Genetic testing DNA Primers Mutation Hereditary pancreatitis Hepatology medicine.diagnostic_test business.industry Middle Aged medicine.disease Pedigree chemistry Pancreatitis Acute Disease Chronic Disease Female business |
| Zdroj: | Pancreas. 22(1) |
| ISSN: | 0885-3177 |
| Popis: | Three-point mutations (R117H, N211, A16V) within the cationic trypsinogen gene have been identified in patients with hereditary pancreatitis (HP). A genetic background has also been discussed for idiopathic juvenile chronic pancreatitis (IJCP), which closely mimicks the clinical pattern of HP, and alcoholic chronic pancreatitis because only a small number of heavy drinkers develop pancreatitis. This prompted us to screen 104 patients in our well-defined pancreatitis cohort for the currently known cationic trypsinogen gene mutations. The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient. No cationic trypsinogen gene mutations were found in the remaining 96 patients with chronic and recurrent acute pancreatitis of various etiologies. Our results demonstrate the need for genetic testing to exclude HP, particularly in the presence of an atypical or unknown family history. In addition, cationic trypsinogen gene mutations are no predisposing factor in patients with chronic and recurrent acute pancreatitis of different etiologies. |
| Databáze: | OpenAIRE |
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