A Study of SPINK 1 Mutation and Other Clinical Correlates in Idiopathic Chronic Pancreatitis
نویسندگان
چکیده
Aim Chronic pancreatitis is labelled as idiopathic when no identifiable factors are found. The identifications of genetic mutations associated with pancreatitis have provided opportunities for identifying patients at risk for idiopathic pancreatitis. The aim of this study was to study the demographic, clinical profile and assess the prevalence of genetic mutation (SPINK 1) in idiopathic chronic pancreatitis. Material and methods The study included prospective analysis of patients with idiopathic chronic pancreatitis at a tertiary care hospital in INDIA. Blood was collected for deoxyribonucleic acid isolation and genotyping of mutations in SPINK1 was performed using the highresolution melting method. Mutations were genotyped using allele-specific amplification polymerase chain reaction. Results 33 patients were included with mean age of 31.75±13.07 years. 22 (67%) of patients were males, 11 (33%) were females. Mean age of patients with SPINK positive was 31.96±9.25 yrs. The mean duration of illness was 31.33±19.89 months. Of the 33 patients 12 (36%) were positive for SPINK-1 mutation. Most of the patients' positive for the SPINK-1 mutation had a younger age of onset. SPINK1 mutation patients in idiopathic chronic pancreatitis showed 100% parenchymal calcification by computed tomography. Conclusions The prevalence of SPINK1 mutation in idiopathic chronic pancreatitis was found to be 36.36%. SPINK1 mutation patients have more frequent episodes of pancreatitis and parenchymal calcification on computed tomography. The clinical profile of idiopathic chronic pancreatitis is different from what has been reported in the past. Received April 05th, 2016 Accepted July 28th, 2016
منابع مشابه
The 5th International Symposium on Inherited Diseases of the Pancreas.
chronic pancreatitis (ICP), the role of this endogenous trypsin inhibitor has been debated. Rolf Graf presented convincing data that SPINK-1 and monitor peptide not only inhibit trypsin in vitro but also participate in a feedback mechanism regulating trypsinogen secretion from pancreatic acinar cells. Both peptides are upregulated and induced as acute phase proteins during infl ammation, cancer...
متن کاملSerine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis
Endoscopic interventional is a commonly used treatment method for idiopathic chronic pancreatitis. Serine protease inhibitor Kazal type 1 (SPINK1) 194+2T>C mutation is most frequently observed in Chinese pancreatitis patients and influences the clinical course of idiopathic chronic pancreatitis patients. We conducted this study to determine the impacts of this mutation on the outcome of endosco...
متن کاملCommon SPINK-1 mutations do not predispose to the development of non-alcoholic fatty liver disease.
BACKGROUND Non-alcoholic fatty liver disease (NAFLD) is common in obese and diabetics. Serine protease inhibitor Kazal-1 (SPINK-1) protein is highly expressed in the liver and adipose tissue of diabetic and obese suggesting its role in NAFLD. SPINK-1 also behaves as an acute phase reactant protein. Some genetic factors including the genetic variations in SPINK-1 protein have been linked to chro...
متن کاملFrequency of CFTR, SPINK1, and Cathepsin B Gene Mutation in North Indian Population: Connections between Genetics and Clinical Data
OBJECTIVES Genetic mutations and polymorphisms have been correlated with chronic pancreatitis (CP). This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) genes and Cathepsin B gene polymorphisms with CP and to associate genetic backgrounds with clinical phenotypes. M...
متن کاملThe Genetic Predisposition and Its Impact on the Diabetes Mellitus Development in Patients with Alcoholic Chronic Pancreatitis
The most common cause of chronic pancreatitis (CP) is alcohol abuse. The aim of the present study was to identify patients with genetic predisposition to CP abusing alcohol. The question posed was whether CP manifests at a younger age and diabetes mellitus develops earlier in individuals with genetic predisposition. The study encompassed 79 patients with alcoholic chronic pancreatitis (ACP) and...
متن کامل