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Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...
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Related Experiment Video

Updated: May 14, 2026

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport
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Hereditary intrinsic factor deficiency in chaldeans.

Amy C Sturm1, Elizabeth C Baack, Michael B Armstrong

  • 1Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, BRT 804, 460W. 12th Ave, Columbus, OH, 43210, USA.

JIMD Reports
|February 23, 2013
PubMed
Summary

Juvenile vitamin B12 deficiency can be challenging to diagnose. A founder mutation in the intrinsic factor gene GIF, specific to Chaldean immigrants from Iraq, was identified as a cause in recent cases.

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Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Juvenile vitamin B12 (cobalamin/Cbl) deficiency presents diagnostic challenges with diverse causes.
  • Consequences include megaloblastic anemia, malabsorption, and neurological issues, often treated with supplementation without identifying the root cause.
  • Identifying the cause is crucial for recurrence risk assessment, especially for inherited or contagious conditions.

Purpose of the Study:

  • To investigate the genetic basis of juvenile Cbl deficiency in families of Chaldean origin.
  • To explore the utility of self-identified ancestry in accelerating rare genetic disorder diagnosis.

Main Methods:

  • Utilized self-identified ancestry to guide genetic diagnosis in three families.
  • Identified a specific mutation in the intrinsic factor gene (GIF) within the Chaldean population.

Main Results:

  • A founder mutation in the GIF gene, exclusive to Chaldeans from Iraq, was identified as the cause of inherited intrinsic factor deficiency (IFD).
  • All diagnosed patients were recent immigrants to the USA from a single region, highlighting migration's role in disease distribution.

Conclusions:

  • Self-identified ancestry can be a valuable tool in diagnosing rare genetic disorders like IFD.
  • Population migrations can relocate specific genetic mutations, influencing the prevalence of inherited diseases in new regions.