Chonnam Med J.  2002 Sep;38(3):280-284.

A Case of Congenital Partial Nephrogenic Diabetes Insipidus

• Kim JS
• Kim SH
• Han DK
• Woo YJ

Abstract

Congenital nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder characterized by polyuria and polydipsia resulting from the failure of the distal renal tubules and collecting ducts to concentrate urine in response to arginine vasopressin (AVP) despite elevated blood levels of AVP. In most cases, a mutation in the AVP receptor 2 gene is the genetic cause of the disease, resulting in X-linked recessive inheritance. We experienced a case of congenital NDI in a 3-year-old boy who showed polyuria and polydipsia. A water deprivation test with subsequent 1-desamino-8-D-arginine vasopressin (DDAVP) administration was performed and the diagnosis of congenital partial NDI was established. Thereafter, treatment with hydrochlorothiazide and DDAVP was initiated. Amiloride, a potassium-sparing diuretics, was added to prevent hypokalemia. Treatment with combinations of hydrochlorothiazide, amiloride, and high dose of DDAVP successfully reduced his urine volume to one third of its original volume. He has shown normal growth and development. The treatment was well tolerated and no side effect could be detected.

Keyword

Congenital partial nephrogenic diabetes insipidus; Arginine vasopressin; Hydrochlorothiazide; Amiloride

MeSH Terms

Amiloride
Arginine Vasopressin
Child, Preschool
Deamino Arginine Vasopressin
Diabetes Insipidus, Nephrogenic*
Diagnosis
Diuretics
Growth and Development
Humans
Hydrochlorothiazide
Hypokalemia
Kidney Tubules, Distal
Male
Polydipsia
Polyuria
Vasopressins
Water Deprivation
Wills
Amiloride
Arginine Vasopressin
Deamino Arginine Vasopressin
Diuretics
Hydrochlorothiazide
Vasopressins