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Congenital Diarrheal Syndromes

Abdul Aziz Elkadri1

  • 1Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, USA.

Clinics in Perinatology
|February 1, 2020
PubMed

Insights

Congenital diarrheal disorders present in early childhood, ranging from mild intolerances to severe diseases. Genomic medicine advances understanding and diagnosis of these rare genetic conditions.

Area of Science:

  • Pediatric Gastroenterology
  • Genetics
  • Molecular Medicine

Background:

  • Congenital diarrheal disorders (CDDs) are a group of rare, heterogeneous conditions causing diarrhea in early life.
  • These disorders vary widely, from temporary cow's milk protein intolerance to severe, life-threatening conditions like microvillous inclusion disease.
  • Recent advancements in genomic medicine have significantly enhanced the identification of causative genes for CDDs.

Purpose of the Study:

  • To provide an overview of congenital diarrheal disorders.
  • To highlight the role of genomic medicine in understanding CDDs.
  • To outline the diagnostic approach for these conditions.

Main Methods:

  • Review of medical history to confirm diarrhea onset and characteristics.
  • Assessment of diarrhea composition and response to fasting.
  • Utilization of specialized diagnostic testing for genetic identification.

Main Results:

  • An expanding list of causative genes for CDDs has been identified through genomic research.
  • The diagnostic pathway involves a multi-step approach combining clinical evaluation and specialized tests.
  • Understanding the genetic basis is crucial for accurate diagnosis and management.

Conclusions:

  • Congenital diarrheal disorders require a thorough diagnostic evaluation.
  • Genomic advancements are pivotal in unraveling the complexities of CDDs.
  • Early and accurate diagnosis is essential for managing morbidity and mortality associated with these conditions.

Keywords:
Congenital diarrheaEnteropathyVEOIBD

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