Nephrogenic diabetes insipidus secondary prevention

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

Overview

AVPR2is the only gene known to be associated with X-linked nephrogenetic diabetes insipidus. AQP2is the only gene known to be associated with autosomal recessive and autosomal dominant nephrogenetic diabetes insipidus.

Secondary Prevention

Molecular Genetic Testing

Clinical Uses

• Diagnostic testing
• Carrier testing
• Prenatal diagnosis

Clinical Testing

• Sequence analysis

• Sequence analysis of the AVPR2 gene detects almost 95% of disease-causing mutations in individuals with X-linked NDI.
• Sequence analysis of the AQP2 gene detects almost 95% of disease-causing mutations in individuals with autosomal recessive or autosomal dominant NDI.

• Linkage analysis. Linkage analysis may be performed:

• To confirm cosegregation of a potential pathogenic mutation with disease in individual families and
• As an ancillary test to obtain preliminary data prior to the completion of sequence analysis. Linkage testing cannot be used to confirm the diagnosis of NDI [Arthus et al 2000].

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.