Abstract
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.
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RM conceived the study, supervised collection of data and edited the manuscript, made figures and charts; MRM and PC collected the data, reviewed the literature and wrote the manuscript; PD, RY and TN conducted and reported on the histopathology and electron microscopy findings of tissue samples from these patients, provided histological details and photomicrographs for the manuscript, and reviewed/corrected the manuscript. RM is the guarantor of this paper.
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Ref No. IEC-804/07.08.20 Dated 8.08.2020.
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Mantoo, M.R., Malik, R., Das, P. et al. Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis. Indian J Pediatr 88, 1135–1138 (2021). https://doi.org/10.1007/s12098-021-03844-z
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DOI: https://doi.org/10.1007/s12098-021-03844-z