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A cluster of microvillous inclusion disease in the Navajo population

J F Pohl1, M D Shub, E E Trevelline

  • 1Department of Pediatric Gastroenterology and Nutrition, Phoenix Children's Hospital, Phoenix, Arizona 85006, USA.

The Journal of Pediatrics
|January 8, 1999
PubMed

Insights

Microvillous inclusion disease (MID), a rare genetic disorder, appears more frequent in Navajo infants due to a potential founder effect. Early diagnosis is recommended for Navajo babies with severe infantile diarrhea.

Area of Science:

  • Pediatric Gastroenterology
  • Human Genetics
  • Rare Diseases

Background:

  • Microvillous inclusion disease (MID) is a rare, inherited gastrointestinal disorder.
  • It presents with early-onset, severe diarrhea in infants.
  • Genetic factors are implicated in its etiology.

Observation:

  • Four unrelated Navajo infants from northern Arizona presented with characteristic microscopic findings of MID.
  • A literature review identified a fifth unrelated Navajo child with MID.
  • This suggests a higher incidence within the Navajo population.

Findings:

  • The elevated prevalence of MID in this cohort points to a potential founder effect.
  • This founder effect may explain the increased frequency of this rare genetic disorder among the Navajo people.
  • The study highlights a specific genetic predisposition within this population.

Implications:

  • Genetic screening for MID should be considered in Navajo infants with severe, early-onset diarrhea.
  • Understanding founder effects is crucial for managing rare genetic disorders in isolated populations.
  • This research underscores the importance of population-specific genetic studies.

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