Spink1 Mutation in Idiopathic Recurrent Acute Pancreatitis- A Pilot Study

Abstract

Introduction: Recurrent Acute Pancreatitis (RAP) and Chronic Pancreatitis (CP) are labeled as idiopathic when no identifiable factors are found. The identification of genetic mutations associated with pancreatitis have provided opportunities for identifying patients at risk for idiopathic pancreatitis. Aim: The aim of the present study was to study the clinical profile and prevalence of SPINK1 mutation in idiopathic RAP. Materials and Methods: The present study was a prospective observational study of idiopathic RAP patients at a tertiary care hospital. DNA was isolated from blood obtained from patients and genotyping of SPINK1 mutation was studied. Results: A total of 17 patients with idiopathic RAP were included. Their mean age was 22.29±9.7 years, 14 (82%) were male, 7 (41.7%) had SPINK1 mutation. Patients with SPINK1 mutations had more frequent acute episodes of pancreatitis. Conclusion: SPINK1 mutation patients have more frequent acute episodes of pancreatitis and nearly 7 (41.7%) had SPINK1 mutations in the so called idiopathic RAP. Genetic testing in idiopathic pancreatitis might have role in future. Multicenter studies are further required to confirm the role of genetic testing in RAP.

Keywords

• gastroenterology
• gene mutation
• prevalence