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{{Nephrogenic diabetes insipidus}}


{{Editor Help}}
'''For patient information page click [[{{PAGENAME}} (patient information)|here]]'''


==Overview==
{{CMG}}; '''Associate Editor in Chief:''' {{CZ}}


Disease characteristics. Nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.
==[[Nephrogenic diabetes insipidus overview|Overview]]==
Diagnosis/testing. The clinical diagnosis of NDI relies upon demonstration of subnormal ability to concentrate the urine despite the presence of the antidiuretic hormone, pituitary-derived arginine vasopressin (AVP). The two genes associated with NDI are AVPR2 (X-linked) and AQP2 (autosomal recessive and autosomal dominant). Molecular genetic testing of the AVPR2 gene detects approximately 95% of disease-causing mutations in individuals with X-linked NDI; molecular genetic testing of the AQP2 gene detects about 95% of disease-causing mutations in individuals with autosomal recessive NDI. Such testing is clinically available.


==Management ==
==[[Nephrogenic diabetes insipidus historical perspective|Historical Perspective]]==


===Treatment of manifestations===  
==[[Nephrogenic diabetes insipidus pathophysiology|Pathophysiology]]==


Management by a team (nutritionist, pediatric nephrologist/endocrinologist, clinical geneticist); provide free access to drinking water and to toilet facilities; reduce polyuria (and thus polydipsia) up to 50% without inducing hypernatremia by use of one of the following: thiazide diuretics (i.e., hydrochlorthiazide, chlorothiazide), dietary restriction of sodium, nonsteroidal anti-inflammatory drugs (NSAIDs); in individuals with dehydration or shock, establish whether the deficit is primarily in free water (through water deprivation or excessive urine, stool, or sweat) or in extracellular fluid (bleeding, fluid extravasation) to avoid inappropriate treatment of dehydration with normal saline (0.9% NaCl); treat hydronephrosis, hydroureter, and megacystis with medical management to reduce urine output and continuous or intermittent bladder catheterization when post-void urinary bladder residuals are significant; when 'NPO' (nothing per ora), individuals with NDI must have intravenous replacement of their usual oral intake of water as 2.5% dextrose in water. Surveillance: monitoring of growth in infants and children; periodic measurement of serum sodium concentration to identify unrecognized hyperosmolality and early dehydration; annual renal ultrasound evaluation to monitor for hydronephrosis and megacystis.
==[[Nephrogenic diabetes insipidus causes|Causes]]==


===Agents/circumstances to avoid===
==[[Nephrogenic diabetes insipidus differential diagnosis|Differentiating Nephrogenic diabetes insipidus from other Diseases]]==


Restriction of water intake. Testing of relatives at risk: evaluation of 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.
==[[Nephrogenic diabetes insipidus epidemiology and demographics|Epidemiology and Demographics]]==


===Genetic counseling===
==[[Nephrogenic diabetes insipidus risk factors|Risk Factors]]==


NDI is most commonly inherited in an X-linked manner (~90% of individuals). NDI can also be inherited in an autosomal recessive manner (~9% of individuals) or in an autosomal dominant manner (~1% of individuals). The risks to sibs and offspring depend upon the mode of inheritance and the carrier status of the parents, which can be established in most families using molecular genetic testing. Prenatal testing is available for at-risk pregnancies in which the disease-causing mutation(s) have been identified in an affected family member.
==[[Nephrogenic diabetes insipidus natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


==Diagnosis==
==Diagnosis==


===Clinical Diagnosis===
[[Nephrogenic diabetes insipidus history and symptoms|History and Symptoms ]] | [[ Nephrogenic diabetes insipidus physical examination|Physical Examination]] | [[Nephrogenic diabetes insipidus laboratory findings|Laboratory Findings]] | [[Nephrogenic diabetes insipidus electrocardiogram|Electrocardiogram]] | [[Nephrogenic diabetes insipidus ultrasound|Ultrasound]] | [[Nephrogenic diabetes insipidus other imaging findings|Other Imaging Findings]] | [[Nephrogenic diabetes insipidus other diagnostic studies|Other Diagnostic Studies]]


Nephrogenic diabetes inspidus (NDI) is suspected in individuals with:
==Treatment==
*Polyuria (excessive urine production)
[[Nephrogenic diabetes insipidus medical therapy|Medical Therapy]] | [[Nephrogenic diabetes insipidus surgery |Surgery]] | [[Nephrogenic diabetes insipidus primary prevention|Primary Prevention]] | [[Nephrogenic diabetes insipidus secondary prevention|Secondary Prevention]] | [[Nephrogenic diabetes insipidus cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] |  [[Nephrogenic diabetes insipidus future or investigational therapies|Future or Investigational Therapies]]
*Polydipsia (excessive thirst)


===Testing===
==Case Studies==


* Tests of Urine-Concentrating Ability
[[Nephrogenic diabetes insipidus case study one|Case #1]]


===Affected individuals===
==Sources==
[http://www.ncbi.nlm.nih.gov GeneReviews at NCBI (an article by Nine Knoers, MD)]


:* Measurement of serum sodium concentration with simultaneous measurement of urine specific gravity is the most helpful screening test for diabetes insipidus.
==Related Chapters==
 
* [[Diabetes insipidus]]
::* An increased serum sodium concentration (>143 mEq/L) in the presence of a low urine specific gravity and in the absence of excessive sodium intake, is highly suggestive of diabetes insipidus.
 
::* The simultaneous occurrence of a high plasma osmolality and low urine osmolality reflects increased serum sodium concentration and low urine specific gravity. Failure to concentrate the urine normally in the presence of high plasma vasopressin concentration and in the presence of parenteral administration of vasopressin or desmopressin (DDAVP) is diagnostic of NDI. Administration of 10 to 40 μg DDAVP intranasally in individuals older than age one year usually results in a urine osmolality that is:
 
:::*Greater than 807 mOsm/kg in normal individuals
:::*Less than 200 mOsm/kg in individuals with NDI [van Lieburg et al 1999]
 
Note: The results of these tests may be difficult to interpret in individuals with "partial diabetes insipidus," which results from either subnormal amounts of vasopressin secretion (partial neurogenic DI) or partial response of the kidney to normal vasopressin concentrations (partial nephrogenic DI). These two disorders can be distinguished by comparing the ratio of urine osmolarity to plasma vasopressin concentration against normal standards.
 
===Females heterozygous for X-linked NDI===  
 
Although an overnight urinary concentration test in female relatives was proposed as a method of carrier detection, it is unreliable.
 
 
{{SIB}}   


   
[[Category:Disease]]
[[Category:Nephrology]]
[[Category:Nephrology]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]

Latest revision as of 04:40, 21 September 2012

Nephrogenic diabetes insipidus

Nephrogenic diabetes insipidus Microchapters

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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

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For patient information page click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor in Chief: Cafer Zorkun, M.D., Ph.D. [2]

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 | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Sources

GeneReviews at NCBI (an article by Nine Knoers, MD)

Related Chapters


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