[Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family].
Hereditary pancreatitis is an uncommon autosomal dominant disease secondary to a mutation normally located in the trypsinogen gene, preventing trypsin deactivation. This mutation translates clinically into recurrent attacks of acute pancreatitis and an increased risk of pancreatic cancer. We report a case of acute hereditary pancreatitis due to a trypsinogen mutation that has previously been described in only one family.
Carbonell
P
P
Unidad de Genética Molecular, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
Glover
G
G
Fernández
J A
JA
Ramírez
M
M
Marín
C
C
Castellanos
G
G
Parrilla
P
P
D002648:Child; D006801:Humans; D008297:Male; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D010375:Pedigree; D014362:Trypsinogen / Q000235:genetics*
D014362:Trypsinogen