Nephrogenic diabetes insipidus: Difference between revisions

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Latest revision as of 04:40, 21 September 2012

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

Treatment

Case Studies

Case #1

Sources

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

Related Chapters

Diabetes insipidus

Template:WikiDoc Sources

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-==Overview==
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-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.
+'''For patient information page click [[{{PAGENAME}} (patient information)|here]]'''
-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 ==
+{{CMG}}; '''Associate Editor in Chief:''' {{CZ}}
-===Treatment of manifestations===
+==[[Nephrogenic diabetes insipidus overview|Overview]]==
-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 historical perspective|Historical Perspective]]==
-===Agents/circumstances to avoid===
+==[[Nephrogenic diabetes insipidus pathophysiology|Pathophysiology]]==
-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 causes|Causes]]==
-===Genetic counseling===
+==[[Nephrogenic diabetes insipidus differential diagnosis|Differentiating Nephrogenic diabetes insipidus from other Diseases]]==
-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 epidemiology and demographics|Epidemiology and Demographics]]==
+==[[Nephrogenic diabetes insipidus risk factors|Risk Factors]]==
+==[[Nephrogenic diabetes insipidus natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
+==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]]
+==Treatment==
+[[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]]
+==Case Studies==
+[[Nephrogenic diabetes insipidus case study one|Case #1]]
+==Sources==
+[http://www.ncbi.nlm.nih.gov GeneReviews at NCBI (an article by Nine Knoers, MD)]
+==Related Chapters==
+* [[Diabetes insipidus]]
+[[Category:Disease]]
+[[Category:Nephrology]]
+[[Category:Endocrinology]]
+{{WikiDoc Help Menu}}
+{{WikiDoc Sources}}

Nephrogenic diabetes insipidus: Difference between revisions

Latest revision as of 04:40, 21 September 2012

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