Article
Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
BMC nephrology - 29 Dec 2015
Dollerup Pia, Thomsen Troels Møller, Nejsum Lene N, Færch Mia, Österbrand Martin, Gregersen Niels, Rittig Søren, Christensen Jane H, Corydon Thomas J
Abstract excerpt
BACKGROUND: Autosomal dominant inheritance of congenital nephrogenic diabetes insipidus (CNDI) is rare and usually caused by variations in the AQP2 gene. We have investigated the genetic and molecular background underlying symptoms of diabetes insipidus (DI) in a Swedish family with autosomal dominant inheritance of the condition. METHODS: The proband and her father were subjected to water deprivation testing and...
Topics
- Aquaporin 2
- Diabetes Insipidus, Nephrogenic
- Female
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Protein Transport