Approach to Congenital Diarrhea and Enteropathies (CODEs)
Issued Date
2023-01-01
Resource Type
ISSN
00195456
eISSN
09737693
Scopus ID
2-s2.0-85179974722
Journal Title
Indian Journal of Pediatrics
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SCOPUS
Bibliographic Citation
Indian Journal of Pediatrics (2023)
Suggested Citation
Kijmassuwan T., Balouch F. Approach to Congenital Diarrhea and Enteropathies (CODEs). Indian Journal of Pediatrics (2023). doi:10.1007/s12098-023-04929-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/95715
Title
Approach to Congenital Diarrhea and Enteropathies (CODEs)
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Author's Affiliation
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Abstract
Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD). Patients with CODEs typically present with severe watery or occasionally bloody diarrhea, steatorrhea, dehydration, poor growth, and developmental delay. Therefore, it is crucial to thoroughly evaluate infants with diarrhea to rule out infectious, allergic, or anatomical causes before considering CODEs as the underlying etiology. Diagnostic investigations for CODEs encompass various modalities, including stool tests, blood tests, immunological studies, endoscopy and biopsies for histology and electron microscopy, and next-generation sequencing (NGS). NGS plays a pivotal role in identifying the genetic mutations responsible for CODEs. Treatment options for CODEs are limited, often relying on total parenteral nutrition for hydration and nutritional support. In severe cases, intestinal transplantation may be considered. The long-term prognosis varies among specific CODEs, with some patients experiencing ongoing intestinal failure and associated complications. In conclusion, the early recognition and accurate diagnosis of CODEs are of paramount importance for implementing appropriate management strategies. Further research and advancements in genetic testing hold promise for enhancing diagnostic accuracy and exploring potential targeted therapies for these rare genetic disorders.