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Microvillus Inclusion Disease and Tufting Enteropathy

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Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Abstract

The heterogeneous group of protracted diarrheas starting in the first months of life traditionally grouped under “intractable diarrhea of infancy” includes many different diseases. Some children are affected by diseases that impair the normal development of intestinal epithelium, causing a severe watery diarrhea that usually requires total parenteral nutrition. The first to be described was microvillus inclusion disease that usually starts in the first days of life with a secretory diarrhea that is worsened by feeding (early-onset microvillus inclusion disease). In a small percentage of cases, diarrhea starts later in life, between 1 and 3 months (late-onset microvillus atrophy). The early form is very severe, and intestinal transplantation should be strongly considered in these cases.

A second congenital epithelial disease is “tufting enteropathy” (intestinal epithelial dysplasia). Tuft enteropathy is associated with severe secretory diarrhea, which worsens with nutrition. That is why affected children have to be treated with total parenteral nutrition. Cases totally dependent on total parenteral nutrition are candidates for intestinal transplantation.

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Authors and Affiliations

  1. Department of Pediatrics, Azienda Sanitaria-Universitaria Friuli Centrale, Hospital “S. Maria della Misericordia”, University of Udine, Italy, Udine, Italy

    Agostino Nocerino

  2. Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, Comer Children’s Hospital, University of Chicago, Chicago, IL, USA

    Stefano Guandalini

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Correspondence to Agostino Nocerino .

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  1. Section of Pediatric Gastroenterology Hepatology and Nutrition, University of Chicago, Chicago, IL, USA

    Stefano Guandalini

  2. Pediatric Liver, GI and Nutrition Center, Child Health, King’s College Hospital, London, UK

    Anil Dhawan

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Nocerino, A., Guandalini, S. (2022). Microvillus Inclusion Disease and Tufting Enteropathy. In: Guandalini, S., Dhawan, A. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-030-80068-0_1

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  • DOI: https://doi.org/10.1007/978-3-030-80068-0_1

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  • Online ISBN: 978-3-030-80068-0

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