Conditions / Genetic
nephrogenic diabetes insipidus type 2
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 heterozygous, homozygous, or compound heterozygous mutation in the gene enc
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 heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.
Signs and symptoms
- Polydipsia
- Hypernatremia
- Polyuria
- Megacystis
- Nephrogenic diabetes insipidus
- Short stature
- Vomiting
- Seizure
- Failure to thrive
- Irritability
Also known as: autosomal nephrogenic diabetes insipidus-2