Cystic Fibrosis Transmembrane Regulator (CFTR) gene harbors over 1910 mutations till date (www.genet.sickkids.on.ca). These mutations result in cystic fibrosis or other disease like Congenital Bilateral Absence of Vas Deferens (CBAVD), obstructive azoospermia, bronchiectasis, asthma and Chronic Pancreatitis (CP) etc. . Chronic pancreatitis is a disease of pancreas that is characterized by permanent destruction and fibrosis of the exocrine parenchyma, leading to exocrine pancreatic insufficiency and progressive endocrine failure leading to diabetes. A familial aggregation nature of CP suggests genetic etiology without definitive mode of inheritance [2,3]. Extensive genetic studies on CP let to classification of hereditary CP and idiopathic CP. Hereditary CP has a penetrance of 70-80% with autosomal dominant inheritance . Idiopathic CP too involves genetic factors but multigenic. The genetic loci reported to predispose CP includes: Serine Protease Inhibitor Kazal 1 (SPINK1), CFTR, CTRC, PRSS1 and cathepsin B (CTSB) . In spite of definitive role of CFTR gene in CP pathogenesis,  there are contradictory reports that claim no association of CFTR gene [7,8]. However, recent studies have reported an increased occurrence of CFTR gene mutations in alcohol related CP patients [9,10]. In this case report, we have demonstrated the co-existence of CFTR and SPINK1 gene mutations in an Idiopathic CP cases.
Citation: Muthuswamy S, Singh S, Choudhuri G, Agarwal S (2015) Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case. Gene Technol 4:116. doi: 10.4172/2329-6682.1000116