1. Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
- Author
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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, 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, and Angioni, A
- Subjects
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 - Abstract
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
- Published
- 2018