CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia
| Autor: | P.F. Pignatti, Carlo Castellani, M. Gomez Lira, G. Mastella, Paolo Bovo, Cristina Patuzzo, Giorgio Cavallini |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
medicine.medical_specialty
Trypsinogen Endocrinology Diabetes and Metabolism DNA Mutational Analysis Sweat chloride Cystic Fibrosis Transmembrane Conductance Regulator Infant Newborn Diseases Cftr gene chemistry.chemical_compound Neonatal Screening Internal medicine Medicine Humans Trypsin Sweat Polymorphism Genetic integumentary system Hepatology business.industry Gastroenterology Infant Newborn Idiopathic pancreatitis Pedigree Endocrinology Phenotype chemistry Pancreatitis Mutation business |
| Zdroj: | Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 1(5) |
| ISSN: | 1424-3903 |
| Popis: | The CFTR gene has been shown to be involved in sporadic idiopathic pancreatitis (IP) and neonatal hypertrypsinemia with normal sweat chloride test (NHNST). The cationic trypsinogen gene (Try4) is responsible for hereditary pancreatitis. The aim of the present study was to find a correlation between mutations in the two genes and the two phenotypes.Analysis of some known gene mutations and complete gene screening by denaturing gradient gel electrophoresis and DNA sequencing were undertaken. Thirty-two sporadic IP patients were investigated for the CFTR study, while 13 sporadic IP patients plus 4 hereditary pancreatitis families (24 tested individuals) were examined for the Try4 study. Fifty neonates with NHNST were investigated for the study of both genes.CFTR mutations were more frequently observed in sporadic IP cases with a common cystic fibrosis mutation or borderline sweat chloride than in cases with a negative sweat test. Try4 mutations were found in 1 out of the 13 sporadic IP cases tested.The CFTR gene may be involved in IP and NHNST, while the Try4 gene may be involved in IP, but not in NHNST, in this limited series of observations. |
| Databáze: | OpenAIRE |
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