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)|
|Failure to thrive||-|
|Feeding difficulties in infancy||-|
|X-linked recessive inheritance||-|
When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene (about 10% of the inherited cases of nephrogenic diabetes insipidus), 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.
The basis of management involves free access to drinking water and toilet facilities. The polyuria can be lowered with a low-salt (sodium), low-protein diet; thiazide diuretics: hydrochlorothiazide and chlorothiazide; other diuretics (i.e., potassium-sparing diuretic amiloride); and nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin. In babies, early recognition is very important because treatment can avoid the physical and intellectual disability that results from repeated episodes of dehydration and high levels of sodium (hypernatremia). Infants and very young children should be offered water every two hours during the day and night. In severe cases, continuous gastric feeding may be required. In adults, the decision to treat is based upon the individual patient's intolerance of the polyuria and polydipsia since, in almost all patients, the thirst mechanism is sufficient to maintain the sodium in the high-normal range. The medication desmopressin may be tried in patients who have persistent symptomatic polyuria after having the above described regimen. Several new approaches to treatment of this disorder are being investigated: V2 receptor chaperones and V2 receptor bypass.
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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