Severe bladder dysfunction in a family with ADH receptor gene mutation responsible for X-linked nephrogenic diabetes insipidus

Nephrol Dial Transplant. 2004 Nov;19(11):2928-9. doi: 10.1093/ndt/gfh486.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Aquaporin 2
  • Aquaporins / genetics*
  • Child
  • Diabetes Insipidus, Nephrogenic / complications
  • Diabetes Insipidus, Nephrogenic / genetics*
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • Mutation
  • Receptors, Vasopressin / genetics*
  • Urinary Bladder / pathology
  • Urinary Bladder / physiopathology
  • Urinary Bladder, Neurogenic / genetics*

Substances

  • AQP2 protein, human
  • Aquaporin 2
  • Aquaporins
  • Receptors, Vasopressin