Chronic pancreatitis is known to be a heterogeneous disease with varied etiologies.Tropical calcific pancreatitis(TCP) is a severe form of chronic pancreatitis unique to developing countries.With growing evidence of g...Chronic pancreatitis is known to be a heterogeneous disease with varied etiologies.Tropical calcific pancreatitis(TCP) is a severe form of chronic pancreatitis unique to developing countries.With growing evidence of genetic factors contributing to the pathogenesis of TCP,this review is aimed at compiling the available information in this field.We also propose a two hit model to explain the sequence of events in the pathogenesis of TCP.展开更多
AIM: To investigate the allelic and haplotypic association of reg1α gene with tropical calcific pancreatitis (TCP). Since TCP is known to have a variable genetic basis, we investigated the interaction between mutatio...AIM: To investigate the allelic and haplotypic association of reg1α gene with tropical calcific pancreatitis (TCP). Since TCP is known to have a variable genetic basis, we investigated the interaction between mutations in the susceptibility genes, SPINK1 and CTSB with reg1α polymorphisms. METHODS: We analyzed the polymorphisms in the reg1α gene by sequencing the gene including its promoter region in 195 TCP patients and 150 ethnically matched controls, compared their allele and haplotype frequencies, and their association with the pathogenesis and pancreaticolithiasis in TCP and fibro-calculous pancreatic diabetes. RESULTS: We found 8 reported and 2 novel polymo-rphisms including an insertion-deletion polymorphism in the promoter region of reg1α. None of the 5' UTR variants altered any known transcription factor binding sites, neither did any show a statistically significant association with TCP. No association with any reg1α variants was observed on dichotomization of patients based on their N34S SPINK1 or L26V CTSB status. CONCLUSION: Polymorphisms in reg1α gene, including the regulatory variants singly or in combination with the known mutations in SPINK1 and/or CTSB genes, are not associated with tropical calcific pancreatitis.展开更多
Intraductal papillary mucinous neoplasm(IPMN)is an increasingly reported entity.Extensive pancreatic calcification is generally thought to be a sign of chronic pancreatitis,but it may occur simultaneously with IPMN le...Intraductal papillary mucinous neoplasm(IPMN)is an increasingly reported entity.Extensive pancreatic calcification is generally thought to be a sign of chronic pancreatitis,but it may occur simultaneously with IPMN leading to diagnostic difficulties.We report a case of a patient initially diagnosed with chronic calcifying pancreatitis who was later shown to have a malignant IPMN.This case illustrates potential pitfalls in the diagnosis of IPMN in the case of extensive pancreatic calcification as well as clues that may lead the clinician to suspecting the diagnosis.The possible mechanisms of the relation between pancreatic calcification and IPMN are also reviewed.展开更多
文摘Chronic pancreatitis is known to be a heterogeneous disease with varied etiologies.Tropical calcific pancreatitis(TCP) is a severe form of chronic pancreatitis unique to developing countries.With growing evidence of genetic factors contributing to the pathogenesis of TCP,this review is aimed at compiling the available information in this field.We also propose a two hit model to explain the sequence of events in the pathogenesis of TCP.
基金Supported by the Council of Scientific and Industrial Research, Ministry of Science and Technology, Government of India
文摘AIM: To investigate the allelic and haplotypic association of reg1α gene with tropical calcific pancreatitis (TCP). Since TCP is known to have a variable genetic basis, we investigated the interaction between mutations in the susceptibility genes, SPINK1 and CTSB with reg1α polymorphisms. METHODS: We analyzed the polymorphisms in the reg1α gene by sequencing the gene including its promoter region in 195 TCP patients and 150 ethnically matched controls, compared their allele and haplotype frequencies, and their association with the pathogenesis and pancreaticolithiasis in TCP and fibro-calculous pancreatic diabetes. RESULTS: We found 8 reported and 2 novel polymo-rphisms including an insertion-deletion polymorphism in the promoter region of reg1α. None of the 5' UTR variants altered any known transcription factor binding sites, neither did any show a statistically significant association with TCP. No association with any reg1α variants was observed on dichotomization of patients based on their N34S SPINK1 or L26V CTSB status. CONCLUSION: Polymorphisms in reg1α gene, including the regulatory variants singly or in combination with the known mutations in SPINK1 and/or CTSB genes, are not associated with tropical calcific pancreatitis.
文摘Intraductal papillary mucinous neoplasm(IPMN)is an increasingly reported entity.Extensive pancreatic calcification is generally thought to be a sign of chronic pancreatitis,but it may occur simultaneously with IPMN leading to diagnostic difficulties.We report a case of a patient initially diagnosed with chronic calcifying pancreatitis who was later shown to have a malignant IPMN.This case illustrates potential pitfalls in the diagnosis of IPMN in the case of extensive pancreatic calcification as well as clues that may lead the clinician to suspecting the diagnosis.The possible mechanisms of the relation between pancreatic calcification and IPMN are also reviewed.
