Conditions / Genetic
X-linked nephrogenic diabetes insipidus
info · Genetic
A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chro
A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.
Signs and symptoms
- Polydipsia
- Diabetes insipidus
- Polyuria
- Megacystis
- Short stature
- Vomiting
- Seizure
- Failure to thrive
- Irritability
- Unexplained fevers
Also known as: nephrogenic diabetes insipidus type 1