The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Constipation | - |
| Diabetes insipidus | - |
| Failure to thrive | - |
| Feeding difficulties in infancy | - |
| Hypernatremia | - |
| Hypertonic dehydration | - |
| Intellectual disability | - |
| Irritability | - |
| Megacystis | - |
| Neonatal onset | - |
| Polydipsia | - |
| Polyuria | - |
| Seizures | - |
| Short stature | - |
| Unexplained fevers | - |
| Vomiting | - |
| X-linked recessive inheritance | - |
When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In autosomal dominant inheritance, one mutated copy of the AQP2 gene in each cell is sufficient to cause the disorder.[2]
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My 14 year old son was diagnosed with nephrogenic diabetes insipidus 7 years ago. He has been taking indomethacin and hydrochlorothiazide and his urine output is fairly well controlled. Recently he developed gout in his big toe. His rheumatologist thinks that it may be due to the thiazide so he was switched to amiloride. Unfortunately, his symptoms got worse so he was put back on indomethacin and hydrochlorothiazide. What causes this condition? How is it inherited? How it it diagnosed? What treatments are available? Will he need to take medication for the rest of his life? See answer
