Pancreas Divisum Is Not a Cause of Pancreatitis by Itself But Acts as a Partner of Genetic Mutations (original) (raw)
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Pancreas divisum does not cause pancreatitis, but associates with CFTR mutations
The American journal of gastroenterology, 2012
Bertin et al. partially dispel arguments that pancreas divisum (PD) causes pancreatitis, but fascinatingly indicate that PD associates with CFTR gene mutations predisposing to pancreatitis. This association, however, does not definitely confer a pathophysiological role for PD in pancreatitis but may denote that PD co-mingles with CFTR mutations without influencing pancreatitis or CFTR mutations influence pancreatic duct embryogenesis. We advise "idiopathic pancreatitis" patients with PD to undergo genetic testing. In lieu of CFTR mutations undertake no endoscopic/surgical procedure; if CFTR mutations are found, then refer patients for genetic counseling and withhold endoscopic/surgical therapy unless randomized studies show benefit.
Pancreas Divisum in Pediatric Acute Recurrent and Chronic Pancreatitis: Report From INSPPIRE
Journal of clinical gastroenterology, 2018
The significance of pancreas divisum (PD) as a risk factor for pancreatitis is controversial. We analyzed the characteristics of children with PD associated with acute recurrent or chronic pancreatitis to better understand its impact. We compared children with or without PD in the well-phenotyped INSPPIRE (INternational Study group of Pediatric Pancreatitis: In search for a cuRE) cohort. Differences were analyzed using 2-sample t test or Wilcoxon rank sum test for continuous variables, Pearson χ or Fisher exact test for categorical variables. PD was found in 52 of 359 (14.5%) subjects, a higher prevalence than the general population (∼7%). Females more commonly had PD (71% vs. 55%; P=0.02). Children with PD did not have a higher incidence of mutations in SPINK1, CFTR, CTRC compared with children with no PD. Children with PD were less likely to have PRSS1 mutations (10% vs. 34%; P<0.01) or a family history of pancreatitis (P<0.05), and more likely to have hypertriglyceridemia (...
Background It is a controversial issue whether pancreas divisum (PD) induces pancreatitis. All previous studies have investigated this issue based on endoscopic procedures, which inevitably involve a selection bias. Objectives To determine the unbiased prevalence rate of PD in a community population and to investigate the effect of PD on idiopathic pancreatitis using a non-invasive magnetic resonance (MR) technique. Design Cross-sectional study. Patients The study enrolled 504 subjects from the community who participated in the medical checkup programme and 46 patients with idiopathic pancreatitis (8 acute, 23 chronic, 15 recurrent) extracted from 70 122 consecutive MR studies performed at an academic tertiary care hospital. Interventions All subjects underwent magnetic resonance (MR) scanning and medical examination. Main outcome measures Statistical comparison between subjects from the community and patients with idiopathic pancreatitis was made for the rate of PD (and its subtypes: classical PD, PD with absent ventral duct, and incomplete PD), MR findings, and clinical features. Results Multiple logistic regression analysis revealed PD as a significant factor that induces pancreatitis (OR 23.4; p<0.0001). The PD rate was significantly higher for all/ chronic/recurrent idiopathic pancreatitis patients (35%/ 43%/33%; p<0.001 for all) than for subjects in the community group (2.6%), but was not higher for acute pancreatitis (13%; p¼0.357). All PD subtypes were indicated to induce idiopathic pancreatitis but showed different associations with each onset type of pancreatitis. Conclusions This is the first study to describe the prevalence of PD and PD subtypes in a community population and their association with idiopathic pancreatitis in vivo based on the findings of non-invasive MR and with minimal selection bias. It is concluded that PD should be considered a predisposing factor for chronic and recurrent pancreatitis.
Current Opinion in Gastroenterology, 2011
Purpose of review-Chronic pancreatitis is a syndrome characterized by chronic inflammation of the pancreas, with variable pain, calcifications, necrosis, fatty replacement, fibrosis and scarring and other complications. Disease susceptibility, severity, progression and pain patterns vary widely and do not necessarily parallel one another. Much of the variability in susceptibility to recurrent acute and chronic pancreatitis is now clearly shown to be related to genetic differences between patients. This review highlights recent advances and future directions in genetic research. Recent findings-The strongest risk factors are associated with genetic variations in PRSS1, SPINK1, CFTR, and to a lesser extent, CTRC and CASR. The latest research suggest that a single factor rarely causes pancreatitis, and the majority of patients with recurrent acute and chronic pancreatitis have multiple variants in a gene, or epistatic interactions between multiple genes, coupled with environmental stressors. Summary-Pancreatic diseases have a strong genetic component. Rather than a classic Mendelian disorder, recurrent acute and chronic pancreatitis represents truly complex diseases with the interaction and synergism of multiple genetic and environmental factors. The future will require new predictive models to guide prevention and therapy.
Progression from acute to chronic pancreatitis associated with CFTR and SPINK1 mutations
Pancreatology, 2020
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CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients
JOP : Journal of the pancreas, 2003
Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in cationic trypsinogen (PRSS1) and in serine protease inhibitor Kazal type 1 (SPINK1) genes have been associated with chronic pancreatitis (alcohol related, idiopathic and hereditary). However, the inheritance pattern is still not clear. Eighty-two unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in 2). Two hundred unrelated individuals with an ethnic distribution comparable to the patients were studied as controls. Detection of mutations in CFTR, PRSS1, and SPINK1 genes. Mutations in the CFTR gene were found in 8 patients (9.8%) with chronic pancreatitis, 5 of them with idiopathic disease. Interestingly, the only clinical symptom in a male patient in the alcoholic group, who was a compound heterozygote (DeltaF508/R170C) for two CFTR mutations, was pancreatitis without infertility or pulmonary involvement. In the PRSS1 gene,...
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
Pancreas, 2006
Chronic pancreatitis is a progressive inflammatory disorder leading to irreversible exocrine and/or endocrine impairment. It is well documented that mutations in the cationic trypsinogen (PRSS1) gene can cause hereditary pancreatitis. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) and the serine protease inhibitor Kazal type 1 (SPINK1) genes are also associated with pancreatitis. We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes. The results identified 32% (122/381) of patients with 166 mutant CFTR alleles, including 12 novel CFTR variants: 4375-20 A>G, F575Y, K598E, L1260P, G194R, F834L, S573C, 2789 + 17 C>T, 621+83 A>G, T164S, 621+25 A>G, and 3500-19 G>A. Of 122 patients with CFTR mutations, 5.5% (21/381) also carried a SPINK1 mutation, and 1.8% (7/381) carried a PRSS1 mutation. In addi...
The course of genetically determined chronic pancreatitis
JOP : Journal of the pancreas, 2003
The clinical course of chronic pancreatitis in patients with mutations of cationic trypsinogen and the trypsin inhibitor SPINK1 has not yet been characterized. Cationic trypsinogen (PRSS1) and the serine protease inhibitor, Kazal type 1 (SPINK1), were analyzed in patients with pancreatitis of unclear origin. Eighty subjects with trypsinogen mutations (21x N29I, 59x R122H) and 59 patients with the SPINK1 N34S variant (11 homozygous, 48 heterozygous) were included in the study. In patients with mutations of PRSS1 (N29I, R122H) and SPINK1 (N34S) the parameters such as calcification, dilatation of the main pancreatic duct, diabetes mellitus, hospital treatments, and surgery were recorded. Case control studies were performed to compare both mutational groups, and the follow-up time served as a matching criterion. The Kaplan-Meier analysis was used to estimate the time course of the symptoms. Ten years after the onset of the disease, the probability (+/-SE) of symptoms in patients with PR...