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, Seventh Edition |
| Publisher | Springer Berlin Heidelberg |
| Pages | 1307-1327 |
| Number of pages | 21 |
| ISBN (Electronic) | 9783662435960 |
| ISBN (Print) | 9783662435953 |
| DOIs | |
| Publication status | Published - 1 Jan 2015 |
| Externally published | Yes |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
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