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• W3114669038 endingPage "31" @default.
• W3114669038 startingPage "31" @default.
• W3114669038 abstract "Several pancreatitis susceptibility genes have been identified to date. A relationship between a mutation in the cationic trypsinogen (protease serine 1, PRSS1) gene and hereditary pancreatitis (HP) was first identified in 1996. Currently, HP has been defined as either two or more individuals within a family exhibiting pancreatitis for two or more generations, or pancreatitis linked to mutation of the PRSS1 gene. In 2000, a mutation in the serine protease inhibitor gene (Kazal type 1: SPINK1) was reported to be related to sporadic pancreatitis of unknown etiology. This paper reviews and summarizes the current published data on the pancreatitis susceptibility genes, mainly PRSS1 and SPINK1 genes, and introduces a diagnostic and therapeutic approach for dealing with patients with these gene mutations. Patients with these genetic predispositions, both children and adults, have often been initially diagnosed with idiopathic acute pancreatitis, in approximately 20–50% of pediatric cases and 28–80% of adult cases. In such patients, where the etiology is unknown, genetic testing, which requires pre-test and post-test genetic counselling, may prove helpful. Patients with chronic pancreatitis (CP) due to SPINK1 gene mutation and HP patients have a potentially high risk of pancreatic exocrine insufficiency, diabetes mellitus, and, of particular importance, pancreatic cancer. Thus, these patients require careful long-term follow-up and management. Specifically, symptomatic CP patients often need endoscopic therapy or surgery, often following a step-up approach beginning with endoscopic therapy and progressing to surgery if necessary, which is similar to the therapeutic approach for patients with CP due to other etiologies. It is important that clinicians are aware of the characteristics of patients with pancreatitis susceptibility genetic abnormalities." @default.
• W3114669038 created "2021-01-05" @default.
• W3114669038 creator A5001206797 @default.
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• W3114669038 creator A5043291695 @default.
• W3114669038 creator A5064636550 @default.
• W3114669038 creator A5087841158 @default.
• W3114669038 date "2020-12-26" @default.
• W3114669038 modified "2023-10-14" @default.
• W3114669038 title "Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment" @default.
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• W3114669038 doi "https://doi.org/10.3390/diagnostics11010031" @default.
• W3114669038 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7824215" @default.

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