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hereditary pancreatitis:An updated review in pediatrics

World Journal of Clinical Pediatrics 2022年第1期11卷 27-37页

作者： Arvind Vasant Panchoo Grant H VanNess Edgardo Rivera-Rivera Trevor J Laborda Division of Gastroenterology Hepatology and NutritionThe Children’s Hospital of San AntonioSan AntonioTX 78207United States Department of Pediatrics Baylor College of MedicineHoustonTX 77030United States Faculty of Medicine Indiana University School of MedicineIndianapolisIN 46202United States Department of Pediatric Gastroenterology Parkview HealthFort WayneIN 46845United States

hereditary pancreatitis(HP)has emerged as a significant cause of acute,acute recurrent and chronic pancreatitis in the pediatric *** that it presents similarly to other causes of pancreatitis,a positive family history and/or isolation of a gene mutation are vital in its *** patterns remain complex,but mutations involving the PRSS1,SPINK1,CFTR and CTRC genes are commonly *** being first described in 1952,dozens of genetic alterations that modify the action of pancreatic enzymes have been *** children,these variants have been isolated in more than 50%of patients with chronic *** research has noted that such mutations in PRSS1,SPINK1 and CFTR genes are also associated with a faster progression from acute pancreatitis to chronic *** with HP are at increased risk of developing diabetes mellitus,exocrine pancreatic insufficiency,and pancreatic *** follows a multi-disciplinary approach with avoidance of triggers,surveillance of associated conditions,treatment of pancreatic insufficiency and use of endoscopic and surgical interventions for *** significant sequela,morbidity and a progressive nature,a thorough understanding of the etiology,pathophysiologic mechanisms,diagnostic evaluation,current management strategies and future research considerations for this evolving disease entity in pediatrics is warranted.

关键词： hereditary pancreatitis Acute pancreatitis Acute recurrent pancreatitis Chronic pancreatitis pancreatitis Pediatrics

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A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene

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World Journal of Gastroenterology 2005年第11期11卷 1634-1638页

作者： Theeraphong Pho-Iam Wanna Thongnoppakhun Pa-Thai Yenchitsomanus Chanin Limwongse Division of Molecular Genetics Division of Medical Genetics

AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct sequencing were performed to analyze the PRSS1 gene in two members of the family affected by pancreatitis. Allele specific amplification (ASA) method was then developed to detect the mutation of the PRSS1 gene in all available members of the family and normal control subjects. RESULTS: A cytosine (C) to thymine (T) mutation at position 2441 (g.2441C>T) of the PRSS1 gene, which results in a substitution of arginine by cysteine at position 116 (R116C) of CT, was identified by direct sequencing in both clinically affected members of the family but was not found in the unaffected member. This mutation, which might be arising from deamination of methylated cytosine in CpG dinucleotide of codon 116 (CGT>TGT), was also detected by the ASA method in the two affected members and a proband's brother but was not observed in unaffected members and 54 normal control subjects. CONCLUSION: Autosomal dominant pancreatitis with increased cancer risk in the studied Thai family is most likely due to missense (R116C) mutation in the PRSS1 gene.

关键词： PRSS1 hereditary pancreatitis Pancreatic cancer Thai R116C

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Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis

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Chinese Medical Journal 2008年第2期121卷 108-111页

作者： LIU Qi-cai GAO Feng OU Qi-shui ZHUANG Ze-hao LIN Shou-rong YANG Bin CHENG Zu-jian Department of Laboratory Medicine First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Departments of Pathology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Department of Gastroenteropathy First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China

Background Mutations in the cationic trypsinogen gene （PRSS1） have been detected in patients with hereditary pancreatitis （HP）. This study investigated the prevalence of the R122H （c.365G〉A）, A121T （c.361 G〉A） and D162D （c.488 C〉T） mutations or polymorphisms in the common, non-hereditary forms of chronic pancreatitis and in an HP family.Methods DNA was prepared from blood samples of 54 patients with chronic pancreatitis （35 alcoholic, 17 idiopathic and 2 hereditary） and 120 normal controls. The PRSS1 genes were amplified by polymerase chain reaction （PCR） and their products were analyzed by sequencing and related clinical data were also collected. Results A new polymorphism （c.488 C〉T） of PRSS1 was found in 25 patients with chronic pancreatitis （including one affected member of the HP family） and six members of the normal controls. The C/T genotype was significantly increased in chronic pancreatitis （OR： 16.379, 95% CI： 5.7522-52.3663）, the frequency of c.488 C〉T change was in according with the Hardy-Weinberg equilibrium, but it doesn＇t affect the clinical phenotype. The commonly reported change of R122H （c.365G〉A） was not detected in any of the study subjects, c.361 G〉A was found in 2 affected members and one unaffected carrier in an HP family. One of the affected members of an HP family had c.361 G〉A mutation and polymorphism （c.488 C〉T） in the PRSS1 gene at the same time. The patient＇s clinical values （C3, C4, CA19-9 and HbA1c） were higher than those of the other patients with chronic pancreatitis. The two patients with HP developed diabetes mellitus and their father died with pancreatic cancer. Conclusion A new polymorphism （c.488 C〉T） in the PRSS1 gene is associated with chronic pancreatitis, but it did not affect the clinical phenotype while the A121T （c.361 G〉A） mutation in the gene shows a significant correlation in the patients with HP.

关键词： hereditary pancreatitis chronic pancreatitis PRSS1 gene mutation polymorphism

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Chronic pancreatitis, pancreatic adenocarcinoma and the black box in-between

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Cell Research 2005年第1期15卷 72-77页

作者： Natalia JURA,Herbert ARCHER,Dafna BAR-SAGI Department of Molecular Genetics and Microbiology Stony Brook University Stony Brook NY 11794-5222 USA.Graduate Program in Molecular and Cellular Biology Stony Brook University Stony Brook NY 11794-5222 USA. Department of Molecular Genetics and Microbiology Stony Brook University Stony Brook NY 11794-5222 USA.Graduate Program in Molecular and Cellular Biology Stony Brook University Stony Brook NY 11794-5222 USA. Department of Molecular Genetics and Microbiology Stony Brook University Stony Brook NY 11794-5222 USA.

Pancreatic cancer is a challenging disease for patients, doctors and researchers who for decades have searched for a cure for this deadly malignancy. Although existing mouse models of pancreatic cancer have shed light on the mecha- nistic basis of the neoplastic conversion of the pancreas, their impact in terms of offering new diagnostics and therapeu- tic modalities remains limited. Chronic pancreatitis is an inflammatory disease of the pancreas that is associated with a gradual damage of the organ and an increased risk of developing neoplastic lesions. In this review, we propose that detailed studies of chronic inflammatory processes in the pancreas will provide insights into the evolution of pancreatic cancer. This information may prove useful in the design of effective therapeutic strategies to battle the disease.

关键词： pancreatic cancer chronic pancreatitis hereditary pancreatitis inflammation mouse models.

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Impact of surgery for chronic pancreatitis on the risk of pancreatic cancer:Untying the Gordian knot

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World Journal of Gastroenterology 2021年第27期27卷 4371-4382页

作者： Raja Kalayarasan Sankar Narayanan Jayaprakash Sahoo Pazhanivel Mohan Department of Surgical Gastroenterology JIPMERPuducherry 605006India Department of Endocrinology JIPMERPuducherry 605006India Department of Medical Gastroenterology JIPMERPuducherry 605006India

Pancreatic ductal adenocarcinoma is an aggressive tumor with poor long-term *** pancreatitis(CP)is considered a risk factor for the development of pancreatic cancer(PC).Persistent pancreatic inflammation and activation of pancreatic stellate cells play a crucial role in the pathogenesis of CPrelated PC by activating the oncogene *** genetic mutations increase the possibility of recurrent and persistent pancreatic inflammation,they are not directly associated with the development of *** studies suggest that early surgical intervention for CP might have a protective role in the development of CP-related ***,the physician faces the clinical question of whether early surgical intervention should be recommended in patients with CP to prevent the development of ***,the varying relative risk of PC in different subsets of CP underlines the complex gene-environment interactions in the disease ***,it is essential to stratify the risk of PC in each individual *** review focuses on the complex relationship between CP and PC and the impact of surgical intervention on PC *** proposed risk stratification based on the genetic and environmental factors could guide future research and select patients for prophylactic surgery.

关键词： Chronic pancreatitis Pancreatic adenocarcinoma Pancreatic cancer Surgery hereditary pancreatitis pancreatitis

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Trypsin in pancreatitis:The culprit,a mediator,or epiphenomenon?

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World Journal of Gastroenterology 2024年第41期30卷 4417-4438页

作者： Anna S Gukovskaya Markus M Lerch Julia Mayerle Matthias Sendler Baoan Ji Ashok K Saluja Fred S Gorelick Ilya Gukovsky Department of Medicine David Geffen School of MedicineUniversity of California at Los AngelesLos AngelesCA 90073United States Department of MedicineVA Greater Los Angeles Healthcare System Los AngelesCA 90073United States Department of Medicine Ludwig Maximilian University HospitalMunich 81377Germany Department of Medicine II Ludwig Maximilian University of MunichMunich 81377Germany Department of Medicine A University of GreifswaldGreifswald 17475Germany Department of Cancer Biology Mayo ClinicJacksonvilleFL 32224United States Department of Surgery University of Miami Miller School of MedicineMiamiFL 33136United States Departments of Cell Biology and Internal Medicine Yale University School of Medicine and VA West HavenNew HavenCT 06519United States

pancreatitis is a common,life-threatening inflammatory disease of the exocrine *** pathogenesis remains obscure,and no specific or effective treatment is *** and alcohol excess are major etiologies of pancreatitis;in a small portion of patients the disease is *** is believed to be initiated by injured acinar cells(the main exocrine pancreas cell type),leading to parenchymal necrosis and local and systemic *** primary function of these cells is to produce,store,and secrete a variety of enzymes that break down all categories of *** digestive enzymes,including all proteases,are secreted by acinar cells as inactive proforms(zymogens)and in physiological conditions are only activated when reaching the *** generation of trypsin from inactive trypsinogen in the intestine plays a critical role in physiological activation of other *** was proposed that pancreatitis results from proteolytic autodigestion of the gland,mediated by premature/inappropriate trypsinogen activation within acinar *** intra-acinar trypsinogen activation is observed in experimental models of acute and chronic pancreatitis,and in human *** the basis of these observations,it has been considered the central pathogenic mechanism of pancreatitis-a concept with a century-old *** review summarizes the data on trypsinogen activation in experimental and genetic rodent models of pancreatitis,particularly the more recent genetically engineered mouse models that mimic mutations associated with hereditary pancreatitis;analyzes the mechanisms mediating trypsinogen activation and protecting the pancreas against its’damaging effects;discusses the gaps in our knowledge,potential therapeutic approaches,and directions for future *** conclude that trypsin is not the culprit in the disease pathogenesis but,at most,a mediator of some pancreatitis ***,the search for effective therapies should

关键词： Pancreatic acinar cell hereditary pancreatitis Autophagy Endolysosomal system Cholecystokinin Cerulein Cathepsin

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