Diabetes Insipidus, Nephrogenic, X-Linked

Alternative Names

  • NDI
  • Diabetes Insipidus, Nephrogenic, Type I
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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Other disorders of kidney and ureter

OMIM Number

304800

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq28

Description

Nephrogenic Diabetes Insipidus (NDI) is a disease condition wherein the kidneys are unable to retain water, resulting in an excessive amount of dilute urine production, and excessive thirst. Congenital NDI is characterized by irritability, lethargy, fever, vomiting, diarrhea, seizures, and a failure to thrive in infants. Affected infants show signs of dehydration, along with a low blood pressure and rapid pulse. Complications of the condition result when the child does not drink enough water to prevent dehydration. In such a case, the highly concentrated blood plasma can cause permanent brain damage and death. Greatly increased urine output with a low osmolality, in the presence of normal or high levels of the anti-diuretic hormone are diagnostic indicators for NDI.

Management of NDI requires most of all, a regular intake of water by the patient. Certain medications may help in reducing the rate of urine formation; most notably non-steroidal anti-inflammatory drugs and thiazide diuretics. Patients may present with dehydration or shock, which requires treatment with isotonic fluid or gradual replacement of the water deficit. Patients will need life long monitoring. However, with proper management, a normal life expectancy can be attained.

Molecular Genetics

Among genetic forms of NDI, the one most studied is the X-linked form of the condition. This type is caused by mutations in the AVPR2 (Arginine Vasopressin Receptor 2) gene. The normal function of this gene is to act as a receptor for vasopressin on the basolateral membrane of collecting duct cells. In patients with the X-linked NDI, however, mutations in this gene cause the receptor to be non-functional. In most cases, this occurs through trapping of the protein intracellularly, not allowing it to reach the membrane. Thus, vasopressin is unable to carry out its natural function of increasing the water permeability of the luminal membrane.

Being an X-linked disease, more males than females are affected with this form of NDI. Female carriers either show no symptoms of the condition or display varying degrees of polyuria and polydipsia.

Epidemiology in the Arab World

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Other Reports

Qatar

Akl and Zayyoud (1983) reviewed the medical records of 83 children who presented with renal disease in Qatar during a single year period. Of these, two patients were found to have nephrogenic diabetes insipidus. Akl and Zayyoud (1983) did not, however, make it clear whether the condition was X-linked.

[Akl K, Zayyoud M. The spectrum of childhood kidney disease in Qatar. Qatar Med J. 1983; 4(2):95-7.]

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