PREVALENCE OF SPINK 1 AND CASR GENE MUTATIONS IN ACUTE AND RECURRENT ACUTE PANCREATITIS : A STUDY FROM CENTRAL INDIA

Background: Genetic factors may play an important role in the pathogenesis of acute pancreatitis. It has been observed in various studies that the presence of risk factors alone like alcohol abuse or gall bladder stones does not lead to attacks of pancreatitis in all the patients. This leads to assumption that genetic factors may decrease the threshold for the development of pancreatitis in presence of one or more risk factors. We observed that there is a paucity of data regarding the role of genetics in acute pancreatitis (AP) and recurrent acute pancreatitis (RAP) in our part of the world and we aimed at studying the prevalence of genetic mutations in such patients. Methods: Our study intended to nd the prevalence of SPINK1 N34S (Serine protease inhibitor kazal type 1) and CaSR (Calcium sensing receptor) gene mutations in patients of AP and RAP. A total of 50 patients and 25 age and gender matched controls entered our study. Blood samples were obtained from all the cases and controls for routine investigations and genetic analysis. SPINK 1 N34S and CaSR gene mutation studies were done in all the patients and controls. Results: Alcohol (64%) followed by gallbladder stone disease (20%) was the most common aetiology of pancreatitis. SPINK 1 N34S mutation was present in 21 patients and 2 controls whereas CaSR gene mutation was present in 13 patients and 2 controls. Patients with SPINK 1 N34S and CaSR gene mutations were younger than the patients without these mutations. Prevalence of both SPINK1 N34S and CaSR gene mutations was higher in patients of RAP than AP. These mutations were not associated with aetiology or severity of pancreatitis. Conclusion: The prevalence SPINK 1 N34S and CaSR gene mutations was higher in patients of AP and RAP. Identication of these mutations in patients of AP can help in the identication of patients who are at increased risk of recurrent attacks of AP

Histopathology of SPINK-1 Hereditary Pancreatitis

Hereditary pancreatitis is a rare form of recurrent acute pancreatitis that typically has an onset in early adulthood. We report a rare case of hereditary pancreatitis in an individual with a serine protease inhibitor Kazal type 1 ( SPINK1) mutation. Histologically the pancreas showed features of chronic pancreatitis with variable fibrosis, acinar destruction, and prominent inspissated secretions within the pancreatic ducts. Additionally, focal areas of low-grade pancreatic intraepithelial neoplasia (PanIN) were present. Although the histopathology of common gene mutations resulting in hereditary pancreatitis have been well described, the histopathology of pancreatitis secondary to SPINK1 mutation has been described in only one previous study.