Differential diagnosis of hereditary nephrogenic diabetes insipidus with desmopressin infusion test.

Abstract

PURPOSE:

The causes of hereditary nephrogenic diabetes insipidus (HNDI) are the mutations in the arginine vasopressin V2 receptor gene (AVPR2) (90%) and aquaporin 2 gene (AQP2) (10%). Although it is possible to perform mutation analysis where available, differentional diagnosis at clinical bases remains valuable.

METHODS:

In this report we present two cases of HNDI diagnosed at clinical bases with a desmopressin infusion test as AQP2 gene mutations. The results were verified by genetic analysis to stress that a desmopressin infusion test is valuable for differential diagnosis of HNDI.

RESULTS:

With a desmopressin infusion test, factor VIII levels were increased up to 219% and 214% respectively, establishing the presence of V2 receptor. With direct sequencing of the AQP2 gene, a previously described splicing mutation in a new codon (380) and a new frameshift mutation were determined in case 1 and case 2 respectively.

CONCLUSION:

It is concluded that the desmopressin infusion test is a simple and reliable method for the diagnosis and differential diagnosis of HNDI in early childhood.

• Authors: Zelal Bircan, Hatice Mutlu, Hae Il Cheong
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 77 Issue 11 Pg. 1329-31 (Nov 2010) ISSN: 0973-7693 [Electronic] India
• PMID: 20814834 (Publication Type: Case Reports, Journal Article)

Chemical References

• Aquaporin 2
• Receptors, Vasopressin
• Deamino Arginine Vasopressin

Topics

• Aquaporin 2 (genetics)
• Deamino Arginine Vasopressin
• Diabetes Insipidus, Nephrogenic (diagnosis, genetics)
• Diagnosis, Differential
• Humans
• Infant
• Male
• Mutation
• Receptors, Vasopressin (genetics)