Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case

Abstract

Familial aggregation of CP suggests genetic factors for disease without definitive mode of inheritance. The hypothesized primary putative gene for CP includes SPINK1, CTSB, CTRC, PRSS1 and CFTR. These genes interact with each other and exhibit a variable phenotype in patients. The present report describes a male adult aged 42 years with a complaint of severe recurrent pain in the abdomen and weight loss and the age of onset was 35 years. The family history of chronic pancreatitis was not found. The biochemical examination revealed the exocrine insufficiency. Abdominal CT identified a dilated main pancreatic duct with numerous stones in the pancreas head. Genetic studies identified the patient to be heterozygous for p.N34S and G551D in SPINK1 and CFTR gene. Extended family screening identified his son (10 years) to have the both mutation p.N34S and G551D mutation in heterozygous state. Present findings suggest the need of genetic diagnosis in familial CP cases thereby precaution can be taken to delay or avoid the disease onset.

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Cite this paper

@inproceedings{Muthuswamy2015CoexistenceOC, title={Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case}, author={Srinivasan Muthuswamy and Shweta Singh and S Agarwal}, year={2015} }