Nephrogenic diabetes insipidus (NDI) [3 genes]

Nephrogenic diabetes insipidus (NDI) is characterized by the inability to concentrate urine, leading to excessive urine production and polydipsia. About 90% of cases are caused by defects in the AVPR2 gene, with an X-linked recessive inheritance pattern, while the remaining 10% are due to defects in the AQP2 gene, with both autosomal dominant and recessive inheritance. Antidiuretic hormone (ADH) deficiency is a differential diagnosis of NDI.

This panel is indicated for a suspected DIN that may include the following clinical characteristics:

• Urine production >50 mL/kg body weight per 24 hours.
• Hypotonic urine (<300 mOsm/kg H2O)
• Polydipsia
• Hyponatremia
• Onset in early childhood
• Developmental defects in untreated cases

~1/100,000 males (AVPR2)

• Thiazide diuretics
• Dietary sodium restriction
• Non-steroidal anti-inflammatory drugs
• Asesoramiento genético

Identifying genetic variants causing NDI allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.