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Signs & Symptoms
The symptoms of NDI can vary from one person to another. Some individuals may be more severely affected than others. The acquired form is almost always less severe than the hereditary forms. In hereditary X-linked NDI, symptoms usually appear shortly after birth and most children are diagnosed within the first year of life. In autosomal dominant NDI, symptoms tend to appear later in life, sometimes not until adulthood. The acquired form of NDI most often occurs in adults and the onset of symptoms may be slow.
The two main symptoms of NDI are chronic excessive urine production (polyuria) leading to excessive thirst (polydipsia). Excessive urination at night (nocturia) also occurs. Some infants may present with vomiting, retching, unexplained fevers, lethargy and irritability. Constipation, diarrhea and poor feeding may also occur. As a result, some infants may fail to grow or gain weight at the expected rate (failure to thrive). In some patients, these symptoms may be mild and underappreciated.
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Infants and adults with NDI may rapidly develop dehydration following low water intake, a hot environment or concurrent illness. Infants with NDI may experience repeated episodes of dehydration, which can result in weakness, confusion, dry mucous membranes, dry skin and weight loss. If left untreated, severe dehydration may develop. Repeated episodes of severe dehydration may result in significant abnormalities including seizures, brain damage, developmental delays and physical and intellectual disability. However, with proper diagnosis and prompt treatment, intelligence and development are usually normal.
Because of the chronic excretion of large amounts of urine, additional symptoms may develop as affected individuals age including bedwetting at night (nocturnal enuresis), abnormal accumulation of urine in the kidneys (hydronephrosis), swelling (distention) of the ureters with urine due to blockage (hydroureter) and an abnormally large bladder (megacystis). Some individuals develop widening (dilatation) of the urinary tract.
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Adults with NDI may also develop orthostatic hypotension, a condition in which there is a dramatic decrease in blood pressure upon standing or sitting. Orthostatic hypotension can result in dizziness or momentary loss of consciousness (syncope).
Many individuals with NDI attain an adult height that is just below normal or where would be expected otherwise. This may result from unsuccessful management or inadequate nutrition during childhood (e.g., failure to thrive).
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