[Diagnosis of a "hereditary pancreatitis" by the detection of a mutation in the cationic trypsinogen gene].
METHODS
A 71-year-old woman was admitted with the suspected diagnosis of pancreatic carcinoma. As a child she had had repeated attacks of abdominal pain of undetermined cause. When aged 48 years she had developed diabetes mellitus. Her now 42-year-old daughter had from the age of 9 years suffered from repeated attacks of acute pancreatitis that had finally led to chronic pancreatitis. The patient's 15-year-old grandchild was having recurrent bouts of abdominal pain.


METHODS
Imaging procedures revealed calcifications in the pancreas and an infiltrating space-occupying lesion, about 3 cm in diameter, in the head of the pancreas with lymph node and liver metastases. Cytological analysis of material aspirated from the space-occupying mass showed typical findings of ductal pancreatic carcinoma. FURTHER TESTS, TREATMENT AND COURSE: At first the patient's course was not typical for a genetically-determined disease, but the family history raised the suspicion of hereditary pancreatitis. A genetic test (Afl-III-RFLP test) demonstrated the mutation Arg 117 His in the cationic trypsinogen gene in all diseased or symptomatic family members. The patient died of the complications of the pancreatic cancer.


CONCLUSIONS
Genetic tests are valuable in the diagnosis of hereditary pancreatitis, because the increased cancer risk can be met by frequent examinations in affected family members.
Gress
T M
TM
Abteilung Innere Medizin I, Universität Ulm.
Micha
A E
AE
Lacher
U
U
Adler
G
G
D015746:Abdominal Pain / Q000209:etiology; D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D002114:Calcinosis / Q000000981:diagnostic imaging; D002908:Chronic Disease; D005190:Family; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D010179:Pancreas / Q000000981:diagnostic imaging; D010182:Pancreatic Diseases / Q000000981:diagnostic imaging; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology; D010195:Pancreatitis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012008:Recurrence; D012307:Risk Factors; D014057:Tomography, X-Ray Computed; D014362:Trypsinogen / Q000235:genetics*; D014463:Ultrasonography
D014362:Trypsinogen
Diagnose einer "hereditären Pankreatitis" durch Nachweis der Mutation im kationischen Trypsinogen-Gen.