Nephrogenic diabetes insipidus other diagnostic studies

Nephrogenic diabetes insipidus Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Other Diagnostic Studies

Molecular Genetics

Testing Strategy

To establish the diagnosis in a proband:

• Since most NDI is caused by AVPR2 mutations, molecular genetic testing of a symptomatic individual, male or female, usually starts with AVPR2 sequencing. If no mutations are found, AQP2 sequencing is performed.
• In affected children (male or female) from consanguineous parents, AQP2 sequencing is performed first, followed by AVPR2 sequencing if no mutation in AQP2 is identified.