Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
| Autor: | Anna Cristina Tomaiuolo, F. Alghisi, R. Padoan, Marco Lucarelli, Letizia Da Sacco, Giuseppe Castaldo, Valeria Raia, Natalia Cirilli, Serena Quattrucci, Antonella Angiolillo, Adriano Angioni, G. Tuccio, Valentina Maria Sofia, Antonio Novelli, Vincenzina Lucidi, Vito Terlizzi, Federica Zarrilli, Carla Colombo, Antonella Miriam Di Lullo, Cesare Braggion, Cecilia Surace |
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| Přispěvatelé: | Sofia, Vm, Surace, C, Terlizzi, V, Da Sacco, L, Alghisi, F, Angiolillo, A, Braggion, C, Cirilli, N, Colombo, C, Di Lullo, A, Padoan, R, Quattrucci, S, Raia, V, Tuccio, G, Zarrilli, F, Tomaiuolo, Ac, Novelli, A, Lucidi, V, Lucarelli, M, Castaldo, G, Angioni, A |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Trans-heterozogosity Cystic Fibrosis Transmembrane Conductance Regulator Gastroenterology Cystic fibrosis Loss of heterozygosity Recurrence Medicine lcsh:QD415-436 Trypsin Child Genetics (clinical) Middle Aged Pancreatic pathways Pancreatic pathway Cystic fibrosi Child Preschool Molecular Medicine medicine.drug Research Article Adult Risk medicine.medical_specialty Adolescent lcsh:Biochemistry 03 medical and health sciences Young Adult CFTR gene Internal medicine Pancreatitis Chronic Genetics PRSS2 Humans Recurrent/chronic pancreatitis In patient Genetic Predisposition to Disease Molecular Biology Gene Pancreas business.industry lcsh:RM1-950 Infant Newborn Infant medicine.disease Molecular medicine Recurrent/chronic pancreatiti 030104 developmental biology lcsh:Therapeutics. Pharmacology Mutation Pancreatitis business |
| Zdroj: | Molecular Medicine Molecular Medicine, Vol 24, Iss 1, Pp 1-10 (2018) |
| Popis: | Background Recurrent (RP) and chronic pancreatitis (CP) may complicate Cystic Fibrosis (CF). It is still unknown if mutations in genes involved in the intrapancreatic activation of trypsin (IPAT) or in the pancreatic secretion pathway (PSP) may enhance the risk for RP/CP in patients with CF. Methods We enrolled: 48 patients affected by CF complicated by RP/CP and, as controls 35 patients with CF without pancreatitis and 80 unrelated healthy subjects. We tested a panel of 8 genes involved in the IPAT, i.e. PRSS1, PRSS2, SPINK1, CTRC, CASR, CFTR, CTSB and KRT8 and 23 additional genes implicated in the PSP. Results We found 14/48 patients (29.2%) with mutations in genes involved in IPAT in the group of CF patients with RP/CP, while mutations in such genes were found in 2/35 (5.7%) patients with CF without pancreatitis and in 3/80 (3.8%) healthy subjects (p |
| Databáze: | OpenAIRE |
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