Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Hereditary pancreatitis. Gene defects and their implications.

L K Gates1, C D Ulrich, D C Whitcomb

  • 1Department of Internal Medicine, University of Kentucky, Lexington, USA. lkgates@pop.uky.edu

The Surgical Clinics of North America
|September 2, 1999
PubMed
Summary

Hereditary pancreatitis, a rare genetic disorder, involves faulty trypsin inactivation, increasing pancreatic cancer risk. Diagnosis uses clinical history and genetic testing, with management similar to nonhereditary forms.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

International consensus guidelines for surgery and the timing of intervention in chronic pancreatitis.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]·2019
Same author

Surveillance for pancreatic cancer in high-risk individuals.

BJS open·2019
Same author

[Multidisciplinar international classification of the severity of acute pancreatitis: Italian version 2013].

Minerva medica·2013
Same author

Necro-inflammatory response of pancreatic acinar cells in the pathogenesis of acute alcoholic pancreatitis.

Cell death & disease·2013
Same author

[International multidisciplinary classification of acute pancreatitis severity: the 2013 Spanish edition].

Medicina intensiva·2013
Same author

[Determinant-based classification of acute pancreatitis severity. International multidisciplinary classification of acute pancreatitis severity: the 2013 German edition].

Zeitschrift fur Gastroenterologie·2013

Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Hereditary pancreatitis is a rare autosomal dominant condition.
  • It is linked to an increased risk of pancreatic cancer in affected families.
  • The fundamental defect involves impaired inactivation of prematurely activated cationic trypsin in acinar cells.

Purpose of the Study:

  • To describe the pathogenesis, diagnosis, and management of hereditary pancreatitis.
  • To highlight the genetic basis and potential link to pancreatic cancer.
  • To discuss current treatment strategies and future screening considerations.

Main Methods:

  • Review of clinical history and molecular diagnostic testing for specific gene defects (R117H, N211).
  • Analysis of disease progression and treatment outcomes.

Related Experiment Videos

  • Epidemiologic assessment of pancreatic cancer risk in hereditary pancreatitis cohorts.

    • Main Results:

    • Type I hereditary pancreatitis is linked to R117H cationic trypsin, and Type II to N211 cationic trypsin, both stemming from trypsin inactivation defects.
    • Diagnosis relies on clinical presentation and genetic confirmation.
    • Medical and surgical management parallels nonhereditary pancreatitis, with attention to disease localization and residual acinar tissue.
    • Increased age-accumulated risk for pancreatic adenocarcinoma is noted.

    Conclusions:

    • Hereditary pancreatitis is caused by genetic defects in trypsin inactivation.
    • Current management is largely supportive and similar to sporadic cases.
    • Screening protocols for pancreatic cancer in hereditary pancreatitis may become cost-effective with age.