Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis.
Mohsin Raj MantooRohan MalikPrasenjit DasRajni YadavTripti NakraPandu ChouhanPublished in: Indian journal of pediatrics (2021)
Congenital diarrhea and enteropathies (CODEs) are monogenic disorders causing early onset of intractable diarrhea. Their diagnosis and management are challenging. With the availability of commercial next generation genetic testing, we are now better able to classify and manage these disorders. The authors present their experience with 4 cases. Two patients had congenital tufting enteropathy (CTE) and 1 case each of microvillous inclusion disease (MVID) and trichohepatoenteric syndrome (THES). Age at onset varied from 3 to 38 d of life. Light microscopy and electron microscopy of duodenal and rectal endoscopic biopsies were consistent with the diagnosis. Genetic evaluation was possible in 3 cases indicating causative mutations. Two children (CTE and MVID) were alive at last follow-up. The authors suggest a stepwise approach to the diagnosis and management of these disorders in the Indian context.
Keyphrases
- early onset
- irritable bowel syndrome
- electron microscopy
- end stage renal disease
- late onset
- ejection fraction
- clostridium difficile
- newly diagnosed
- chronic kidney disease
- prognostic factors
- young adults
- peritoneal dialysis
- high resolution
- high throughput
- gene expression
- rectal cancer
- optical coherence tomography
- high speed
- mass spectrometry
- copy number