Nephrogenic diabetes insipidus secondary prevention: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
 
(One intermediate revision by the same user not shown)
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.
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].
====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==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 04:34, 21 September 2012

Nephrogenic diabetes insipidus Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Nephrogenic diabetes insipidus from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Tertiary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Nephrogenic diabetes insipidus secondary prevention On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Nephrogenic diabetes insipidus secondary prevention

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Nephrogenic diabetes insipidus secondary prevention

CDC on Nephrogenic diabetes insipidus secondary prevention

Nephrogenic diabetes insipidus secondary prevention in the news

Blogs on Nephrogenic diabetes insipidus secondary prevention

Directions to Hospitals Treating Nephrogenic diabetes insipidus

Risk calculators and risk factors for Nephrogenic diabetes insipidus secondary prevention

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