The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis.

INTRODUCTION  Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis. OBJECTIVES  The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without ...

متن کامل

A novel SPINK1 gene mutation, c.206C>T, in a Thai patient with chronic alcoholic pancreatitis.

CONTEXT The exact mechanism of alcoholic pancreatitis has not yet been clarified. Recent studies suggest that alcohol represents only a risk factor for developing pancreatic inflammation in genetic or environmental susceptible subjects. In this regard, various genes involving an alcohol-metabolizing pathway or pancreatitis protecting factors have been extensively studied in order to identify ge...

متن کامل

Investigation of the SPINK1 N34S mutation in Romanian patients with alcoholic chronic pancreatitis. A clinical analysis based on the criteria of the M-ANNHEIM classification.

BACKGROUND AND AIMS The N34S mutation in the serine protease inhibitor Kazal type I (SPINK1) gene has been associated with chronic pancreatitis. Clinical data about the phenotypic expression of alcoholic chronic pancreatitis with the N34S variant are limited. The prevalence of the N34S mutation in patients with chronic pancreatitis and healthy individuals from Eastern Europe is unknown. METHO...

متن کامل

Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.

BACKGROUND Although chronic pancreatitis is associated with risk factors such as alcoholism, hyperparathyroidism, and hypertriglyceridaemia, little is known of the actual aetiology of the disease. It is thought that inappropriate activation of trypsinogen causes pancreatitis, and indeed in cases of hereditary pancreatitis mutations of cationic trypsinogen (PRSS1) have been described. As serine ...

متن کامل

Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.

BACKGROUND/AIMS A relation between some genetic mutations and chronic pancreatitis (CP) has been reported. However, the relation of genetic mutation to alcoholic CP (ACP) and idiopathic CP (ICP) still remains controversial. In this study, we investigated the prevalence of protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1) SPINK1 and cystic fibrosis transmembrane conduct...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Polish Archives of Internal Medicine

سال: 2012

ISSN: 1897-9483

DOI: 10.20452/pamw.1293