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Nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.
Prevalence is estimated at 1-2/1 000 000.
The disease results from the failure of the renal tubules to respond to antidiuretic hormone. In most cases, the disease is caused by mutations in the gene located on Xq28 coding for the V2 receptor of antidiuretic hormone. In cases of autosomal recessive or dominant transmission, NDI is caused by mutations in the AQP2 gene (located on chromosome 12) that codes for aquaporin-2. Aquaporin-2 is involved in the transportation of water in the renal tubules.
In most cases, the disease is X-linked recessive, but it can also be autosomal recessive or dominant.
Management and treatment
Abnormal urine concentration does not respond to antidiuretic hormone treatment. Patients should receive a low salt diet with limited potassium and protein intake and take thiazide diuretics in combination with indomethacin. This treatment has changed the life of affected patients, especially infants.