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.
CITATION STYLE
Knoers, N. V. A. M., & Levtchenko, E. N. (2015). Nephrogenic diabetes insipidus in children. In Pediatric Nephrology, Seventh Edition (pp. 1307–1327). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-662-43596-0_36
Mendeley helps you to discover research relevant for your work.