Nephrogenic diabetes insipidus in children

Nine V A M Knoers; Elena N. Levtchenko

doi:10.1007/978-3-662-43596-0_36

Nephrogenic diabetes insipidus in children

Nine V A M Knoers^*, Elena N. Levtchenko

^*Corresponding author for this work

Department of Genetics

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

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.

Original language	English
Title of host publication	Pediatric Nephrology
Editors	Ellis D. Avner, William E. Harmon, Patrick Niaudet, Norishige Yoshikawa, Francesco Emma, Stuart L. Goldstein
Publisher	Springer Berlin Heidelberg
Pages	1307-1327
Number of pages	21
Volume	2
Edition	Seventh Edition
ISBN (Electronic)	978-3-662-43596-0
ISBN (Print)	9783662435953, 978-3-662-43597-7
DOIs	https://doi.org/10.1007/978-3-662-43596-0_36
Publication status	Published - 1 Jan 2015

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title = "Nephrogenic diabetes insipidus in children",

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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Nephrogenic diabetes insipidus in children. / Knoers, Nine V A M; Levtchenko, Elena N.
Pediatric Nephrology. ed. / Ellis D. Avner; William E. Harmon; Patrick Niaudet; Norishige Yoshikawa; Francesco Emma; Stuart L. Goldstein. Vol. 2 Seventh Edition. ed. Springer Berlin Heidelberg, 2015. p. 1307-1327.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

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Nephrogenic diabetes insipidus in children

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