November 12, 2014
ISSN: 1442-200X (Electronic)
Accession Number: 24134754
Keywords: Carrier Proteins/*genetics/metabolism
Cholangiopancreatography, Endoscopic Retrograde
Cholangiopancreatography, Magnetic Resonance
*Genetic Predisposition to Disease
Tomography, X-Ray Computed
Abstract: Hereditary pancreatitis (HP) is an autosomal-dominant gene disorder. The affected genes have been identified as the cationic trypsinogen (CT) gene and the serine protease inhibitor Kazal type 1 (SPINK1) gene. These gene abnormalities alone, however, do not necessarily regulate the onset or severity of pancreatitis, suggesting the involvement of other gene abnormalities and environmental factors. Reported herein is the case of a 9-year-old boy with early-onset HP due to mutations in the CT and SPINK1 genes. The patient had a p.R122H heterozygous mutation in the CT gene and a p.N34S heterozygous mutation in the SPINK1 gene. The father had heterozygous mutation of the SPINK1 gene, and the mother had heterozygous mutation of the CT gene, although neither had a prior history of pancreatitis. In this patient, early onset of HP was attributed to the presence of gene abnormalities in the CT and SPINK1 genes.
Notes: Awano, Hiroyuki
Research Support, Non-U.S. Gov’t
Pediatr Int. 2013 Oct;55(5):646-9. doi: 10.1111/ped.12152.
Author Address: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Reference Type: Journal Article
Record Number: 4914Author: Azar, L., Chatterjee, S. and Schils, J.
Title: Pancreatitis, polyarthritis and panniculitis syndrome