J Korean Assoc Pediatr Surg.  2006 Jun;12(1):24-31.

Hereditary Pancreatitis: Report of a Kindred

Affiliations
  • 1Department of Surgery, St. Mary's Hospital, The Catholic University of Korea, Korea. ytsong@catholic.ac.kr
  • 2Department of Internal Medicine, Liver Research Institute, Seoul National University College of Medicine, Seoul, Korea.

Abstract

Hereditary pancreatitis (HP) appears as an autosomal dominant trait. If the patient has (1) more than 2 affected relatives in different generations and (2) no known etiological factors such as alcohol or gallstones, or has R122H or N29I mutation in the cationic trypsinogen (CT) gene, the diagnosis of HP can be applied. Risk of pancreatic cancer is estimated to be 53-fold higher than in a general population after the age of 50 years. We report a kindredof HP, involving three of its family together; two siblings (14 years old, 13 years old) and cousin (26 years old). The patient had complicating chronic pancreatitis and pancreatic stone, and was treated with amodified Puestow-Gillesby procedure. Her sisters showed chronic pancreatitis. Her cousin underwent a drainage procedure of the pancreatic duct for chronic pancreatitis during the high school period. All the three members showed the R122H mutation of the CT gene.

Keyword

Hereditary pancreatitis; Pancreatic stone; Surgery; Cationic trypsinogen gene

MeSH Terms

Diagnosis
Drainage
Family Characteristics
Gallstones
Humans
Pancreatic Ducts
Pancreatic Neoplasms
Pancreatitis*
Pancreatitis, Chronic
Siblings
Trypsinogen
Trypsinogen
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