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Congenital Nephrogenic Diabetes Insipidus

An inherited disease in which kidney collecting tubules are unresponsive to antidiuretic hormone, presenting with severe polyuria and dehydration.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Congenital Nephrogenic Diabetes Insipidus?

Nephrogenic diabetes insipidus is the unresponsiveness of the collecting duct to antidiuretic hormone (ADH/vasopressin). The congenital form shows X-linked recessive (AVPR2 gene, severe in males) or autosomal recessive (AQP2 gene) inheritance. The acquired form develops due to medications such as lithium or electrolyte disturbances.

Clinically, neonatal period presents with feeding difficulty, fever, failure to thrive, excessive urine output, and recurrent hypernatremia attacks. Diagnosis uses serum and urine osmolarity, sodium, water restriction test, desmopressin response, and genetic testing.

Treatment includes hydration, low-solute load diet (low protein, low sodium), thiazide diuretics, indomethacin, and amiloride combinations. Early diagnosis and prevention of brain damage are critical for prognosis.

Symptoms

Severe polyuria and polydipsia
Recurrent hyperthermia
Vomiting and feeding difficulty
Failure to thrive and growth retardation
Restlessness and convulsions
Dehydration episodes
Hypernatremia

Risk Factors

Family history (X-linked or autosomal)
Male gender (X-linked form)
Consanguineous marriage
Recurrent dehydration in newborn
Maternal cystic kidney history
Early-onset neurological damage

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained fever and vomiting in newborn
  • Severe dehydration episodes
  • When hypernatremia is detected
  • In the presence of polyuria and polydipsia findings
  • In the presence of similar family history

Treatment Methods

01
Serum and urine osmolarity
02
Desmopressin response test
03
Genetic test (AVPR2, AQP2)
04
Hydration and low-solute diet
05
Thiazide + amiloride + indomethacin
06
Developmental monitoring and neurological follow-up

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.