title: CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.
abstract: Chronic pancreatitis (CP) is characterized by progressive damage to the exocrine and endocrine cell structures and pancreatic ducts with subsequent fibrosis of the organ. Patients with no apparent etiological factor are classified as having idiopathic CP (ICP). Genetic studies indicate the importance of mutations in the serine protease inhibitor, Kazal type 1 gene (SPINK1) in the pathogenesis of CP This report describes a case of a 29-year-old Polish-Vietnamese patient with the p.Asn34Ser (p.N34S) homozygous mutation in the SPINK1 gene. The patient was hospitalized due to pain of average intensity in the epigastric area which occurred for the first time in his life. Imaging examination showed the atrophy of the pancreatic parenchyma with the presence of numerous small calcifications and a single calcified lodgement with a diameter of 22 mm in the distal segment of Wirsung 's duct. Clinical interview did not reveal any obvious etiological pancreatitis risk factors implying the causative role of the p.Asn34Ser homozygous mutation of SPINK1 in this case as proven in our investigation.
authors.forename: Agnieszka Magdalena
authors.initials: AM
authors.lastname: Rygiel
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Wojnicka-Stolarz
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Niepokój
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Oracz
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Gutkowski
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000175:diagnosis* / Q000235:genetics*; D011110:Polymorphism, Genetic; D014359:Trypsin Inhibitor, Kazal Pancreatic / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic