title: Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene.
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.
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Awano
authors.forename: Tomoko
authors.initials: T
authors.lastname: Lee
authors.forename: Mariko
authors.initials: M
authors.lastname: Yagi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Masamune
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Kume
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
mesh_terms: D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002760:Cholangiopancreatography, Endoscopic Retrograde; D049448:Cholangiopancreatography, Magnetic Resonance; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014357:Trypsin / Q000235:genetics* / Q000378:metabolism; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic; D004247:DNA; C489303:PRSS1 protein, human; D014357:Trypsin
keywords: cationic trypsinogen gene; hereditary pancreatitis; serine protease inhibitor Kazal type 1 gene