.... The vast majority of water balance disorders are acquired. In this article, the focus is on the inherited disorders both of water (nephrogenic diabetes insipidus) and acid-base balance. Both acidosis and alkalosis can arise from primary tubular ion transport abnormalities. The alkaloses are usually...

...D. Bockenhauer; W. van’t Hoff; M. Dattani; A. Lehnhardt; M. Subtirelu; F. Hildebrandt; D.G. Bichet Background/Aims: Nephrogenic diabetes insipidus (NDI) is a serious condition with large water losses in the urine and the risk of hypernatremic dehydration. Unrecognized, repeated episodes...

...Detlef Bockenhauer; Eric Carpentier; Driss Rochdi; W. van’t Hoff; Billy Breton; Virginie Bernier; Michel Bouvier; Daniel G. Bichet Background/Aims: Mutations in the type 2 vasopressin receptor gene (AVPR2) underlie X-linked recessive nephrogenic diabetes insipidus (NDI). Here, we report on a family...

... and no redistribution was observed after forskolin stimulation. Of note, homology modeling revealed that the two mutations involve two highly conserved residues providing important clues about the role of the wt residues in AQP2 stability and function. Nephrogenic diabetes insipidus (NDI) is an inherited disease...