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Nephrogenic Diabetes Insipidus in Children

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Pediatric Nephrology

Abstract

Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVP2R or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. In this chapter, the clinical aspects as well as the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal recessive and autosomal dominant NDI will be discussed, specifically addressing the latest developments within the field. Based on deepened mechanistic understanding, new therapeutic strategies are currently being explored, which we also describe here.

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Authors and Affiliations

  1. Departments of Medical Genetics, University Medical Centre Utrecht, 85090, 3508 AB, Utrecht, The Netherlands

    Nine V. A. M. Knoers

  2. Department of Pediatric Nephrology, Department of Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Herestraat 49, B-3000, Leuven, Belgium

    Elena N. Levtchenko

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  1. Nine V. A. M. Knoers
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  2. Elena N. Levtchenko
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Correspondence to Nine V. A. M. Knoers .

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Editors and Affiliations

  1. Department of Pediatrics, Medical College of Wisconsin, Children’s Research Institute, Children’s Hospital, Health System of Wisconsin, Milwaukee, Wisconsin, USA

    Ellis D. Avner

  2. Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

    William E. Harmon

  3. Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université Paris-Descartes, Paris, France

    Patrick Niaudet

  4. Department of Pediatrics, Wakayama Medical University, Wakayama City, Japan

    Norishige Yoshikawa

  5. Division of Nephrology, Bambino Gesù Children’s Hospital – IRCCS, Rome, Italy

    Francesco Emma

  6. Division of Nephrology and Hypertension, The Heart Institute, Cincinnati Children’s Hospital Medical Center, College of Medicine, Cincinnati, Ohio, USA

    Stuart L. Goldstein

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Knoers, N.V.A.M., Levtchenko, E.N. (2016). Nephrogenic Diabetes Insipidus in Children. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N., Emma, F., Goldstein, S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-43596-0_36

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