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Congenital Disorders of Intestinal Electrolyte Transport

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Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Abstract

Congenital diarrheal disorders (CDD) represent a group of rare chronic enteropathies characterized by a heterogeneous etiology, with a typical onset early in the life. In the context of CDD, a subset consists in congenital disorders of intestinal electrolytes transport, a class of inherited disorders related to a defect in intestinal transepithelial ion transport. Most of these disorders display similar clinical presentation. For many of these conditions, severe chronic diarrhea represents the main clinical manifestation, while in others diarrhea is only a component of a more complex multiorgan or systemic disease. Frequently, diarrhea leads to severe dehydration and metabolic acidosis. In the vast majority of cases, appropriate therapy must be started immediately to prevent dehydration and long-term, and sometimes life-threatening, complications. The diagnosis of these disorders is rather complex, but in most cases, the disease gene is known. Thus, molecular analysis has become a major advantage in the difficult diagnostic approach to a patient with suspected congenital disorders of intestinal electrolytes transport. This group of disorders includes congenital chloride diarrhea, congenital sodium diarrhea, familial diarrhea syndrome, and cystic fibrosis that are the main subjects of this chapter.

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Acknowledgment

Grant from Agenzia Italiana del Farmaco, AIFA (MRAR08W002), is gratefully acknowledged.

Author information

Authors and Affiliations

  1. European Laboratory for the Investigation of Food Induced Diseases, University of Naples “Federico II”, Via S. Pansini 5, Naples, 80131, Italy

    Roberto Berni Canani

  2. Department of Translational Medical Science—Section of Pediatrics, University of Naples “Federico II”, Via S. Pansini 5, Naples, 80131, Italy

    Vincenza Pezzella, Tommaso Cozzolino, Ylenia Maddalena, Rita Nocerino & Roberto Berni Canani

  3. Department of Gynaecology—Obstetrics and Perinatal Medicine, University of Rome “La Sapienza”, Policlinico Umbero I, Rome, Italy

    Gianluca Terrin

  4. Department of Perinatal Medicine, Neonatology Unit, Sapienza University of Rome, Rome, Italy

    Gianluca Terrin

Authors
  1. Vincenza Pezzella
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  2. Tommaso Cozzolino
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  3. Ylenia Maddalena
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  4. Gianluca Terrin
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  5. Rita Nocerino
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  6. Roberto Berni Canani
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Corresponding author

Correspondence to Roberto Berni Canani .

Editor information

Editors and Affiliations

  1. Department of Pediatrics, University of Chicago, Chicago, Illinois, USA

    Stefano Guandalini

  2. Clinical Director Child Health King’s College Hospital, Professor and Director Pediatric Liver, GI and Nutrition Center, London, United Kingdom

    Anil Dhawan

  3. Department of Pediatrics, Hebrew University Hadassah Hospital, Jerusalem, Israel

    David Branski

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Pezzella, V., Cozzolino, T., Maddalena, Y., Terrin, G., Nocerino, R., Berni Canani, R. (2016). Congenital Disorders of Intestinal Electrolyte Transport. In: Guandalini, S., Dhawan, A., Branski, D. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-319-17169-2_36

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  • DOI: https://doi.org/10.1007/978-3-319-17169-2_36

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17168-5

  • Online ISBN: 978-3-319-17169-2

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