...Kek Heng Chua; Suat Moi Puah; Ching Hoong Chew; Choon Heng Wong; Khean Lee Goh Background/Aims: Hereditary pancreatitis (HP) is a very rare form of early-onset chronic pancreatitis, which usually begins in childhood with a variable spectrum of severity of disease. HP is commonly caused by variants...

...) causing hereditary pancreatitis some patients formerly diagnosed with idiopathic AP (IAP) turn out to have a genetic cause. Methods: Data on patients <30 years of age, diagnosed with AP identified in the Danish National Registry of Patients, were retrieved. Patients previously diagnosed with IAP were...

... of N34S and AAT mutations in ACP and idiopathic CP patients was similar. Genetic mutations Chronic pancreatitis Idiopathic chronic pancreatitis Alcohol-related pancreatitis Hereditary pancreatitis Original Paper Pancreatology 2009;9:644 651 DOI: 10.1159/000181177 Received: April 22, 2008...

... ultrasound Familial pancreatic cancer Hereditary pancreatitis Molecular screening Molecular Diagnosis of Pancreatic Cancer: Review Series Guest Editors: J.P. Neoptolemos (Liverpool); T.M. Gress (Marburg) Pancreatology 2009;9:215 222 DOI: 10.1159/000210262 Published online: April 7, 2009 Screening...

... describing surveillance of individuals at high risk of pancreatic cancer. Hereditary pancreatitis patients, people with Peutz-Jeghers syndrome, individuals with CDKN2A or BRCA1/2 mutations with a family history of pancreatic cancer and kindred with multiple pancreatic cancers were considered suitable...

... patients with familial pancreatitis without a cationic trypsinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients...

... Cytokines Hereditary pancreatitis Original Paper Pancreatology 2004;4:490 494 DOI: 10.1159/000080245 Received: June 6, 2003 Accepted after revision: February 10, 2004 Published online: August 16, 2004 Transforming Growth Factor-ß1, Interleukin-10 and Interferon-Á Cytokine Polymorphisms in Patients...

...Miklós Sahin-Tóth Background/Aims: This study attempts to identify the biochemical alterations in human cationic trypsinogen and trypsin caused by the hereditary pancreatitis-associated mutations Arg117→His and Asn21→Ile. Methods: Recombinant wild-type and mutant human cationic trypsinogens were...

... per 10 5 population) – relative to the diagnostic accuracy of present detection methods to permit primary screening in the asymptomatic adult population. The recognition that the lifetime risk of developing pancreatic cancer for patients with hereditary pancreatitis (HP) is extremely high (20...

..., familial pancreatitis, hereditary pancreatitis and tropical pancreatitis. The possible role of SPINK1 mutations and polymorphisms in pancreatic disease is discussed. Serine protease Hereditary pancreatitis Tropical pancreatitis Idiopathic pancreatitis Chronic pancreatitis 17 9 2001 ©...

...S.E. Applebaum-Shapiro; R. Finch; R.H. Pfützer; L.A. Hepp; L. Gates; S. Amann; S. Martin; C.D. Ulrich II; D.C. Whitcomb Background: Hereditary pancreatitis (HP) was defined on a clinical basis alone until the first cationic trypsinogen gene (PRSS1) mutation was discovered through the initial phase...

...Isao Nishimori; Saburo Onishi Pancreatitis-associated gene mutations have been reported in patients with hereditary pancreatitis and idiopathic pancreatitis in the Caucasian population and involve the cationic trypsinogen gene, the pancreatic secretory trypsin inhibitor gene and the cystic fibrosis...