Nephrogenic diabetes insipidus secondary prevention: Difference between revisions
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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. | 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== | ==Secondary Prevention== | ||
===Surveillance=== | |||
* Monitoring of growth in infants and children | |||
* Periodic measurement of serum sodium concentration to identify unrecognized hyperosmolality and early dehydration. Note: Urine output and urine specific gravity are useless as indicators of hydration status. | |||
* Annual renal ultrasound evaluation to monitor for hydronephrosis and megacystis [Shalev et al 2004] | |||
===Testing of Relatives at Risk=== | |||
It is appropriate to evaluate at-risk infants as early as possible to allow for prompt diagnosis and treatment to reduce morbidity from hypernatremia, dehydration, and dilation of the urinary tract | |||
===Molecular Genetic Testing=== | ===Molecular Genetic Testing=== | ||
====Clinical Uses==== | ====Clinical Uses==== | ||
| Line 18: | Line 29: | ||
:* To confirm cosegregation of a potential pathogenic mutation with disease in individual families and | :* 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]. | :* 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]. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 04:34, 21 September 2012
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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
Surveillance
- Monitoring of growth in infants and children
- Periodic measurement of serum sodium concentration to identify unrecognized hyperosmolality and early dehydration. Note: Urine output and urine specific gravity are useless as indicators of hydration status.
- Annual renal ultrasound evaluation to monitor for hydronephrosis and megacystis [Shalev et al 2004]
Testing of Relatives at Risk
It is appropriate to evaluate at-risk infants as early as possible to allow for prompt diagnosis and treatment to reduce morbidity from hypernatremia, dehydration, and dilation of the urinary tract
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].