Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations

ObjectiveTo study the genetic predisposition, phenotype and prognosis of idiopathic chronic pancreatitis (CP).DesignProspective observational and case–control study.SettingTertiary care academic centre.PatientsConsecutive patients with CP.InterventionsDetailed mutational analysis was done for the cationic trypsinogen, SPINK1 and CFTR genes with single-strand conformational polymorphism or restricted fragment length polymorphism, and sequencing. Clinical and disease characteristics of idiopathic versus alcoholic CP, and early onset versus late onset idiopathic CP were compared. Response to multimodality treatment (medical, endoscopic and/or surgical) and prognosis were analysed.Main outcome measuresGenetic mutations, phenotypic characterisation and prognosis of idiopathic CP.ResultsOf the 411 patients with CP, 242 had idiopathic aetiology (age 27.50±11.85 years; 154 men). Malnutrition and cassava were not risk factors. SPINK1 N34S mutation was present in 42% of patients with idiopathic CP (vs 4% controls, p