Nephrogenic diabetes insipidus secondary prevention: Difference between revisions

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Latest revision as of 04:34, 21 September 2012

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].

References

Template:WH Template:WS

@@ Line 6: / Line 6: @@
 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====
@@ Line 16: / Line 27: @@
 :* 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
+:* 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].
-====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.
 ==References==
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