Nephrogenic diabetes insipidus history and symptoms: Difference between revisions
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*[[Polyuria]] (excessive urine production) | *[[Polyuria]] (excessive urine production) | ||
*[[Polydipsia]] (excessive thirst) | *[[Polydipsia]] (excessive thirst) | ||
In children, | |||
*[[Vomiting]] | |||
*Gagging or retching | |||
*Poor feeding | |||
*[[Constipation]] or [[diarrhea]] | |||
*Failure to thrive | |||
*Unexplained [[fever]]s | |||
*Lethargy or irritability | |||
Symptoms common to children and elderly are: | |||
*[[Dehydration]] associated with hot environment, water deprivation, [[diarrhea]] or [[fever]] | |||
*[[Seizures]] with rapid increase or decrease in serum osmolarity | |||
In patients with partial NDI, | |||
*Tend to be diagnosed in later childhood | |||
*Usually do not have growth or developmental delay and are able to concentrate the urine in response to dehydration or DDAVP administration, but to a lesser extent than unaffected individuals. | |||
Heterozygotes for X-linked NDI, may have no symptoms or variable degree of [[polyuria]] or [[polydipsia]] or may be as severely affected as males. In females heterozygous for AVPR2 mutations, a correlation between urine-concentrating ability (and symptoms) and skewed X-chromosome inactivation in leukocytes has been reported in one family [Nomura et al 1997, Kinoshita et al. 2004]. | |||
==References== | ==References== |
Latest revision as of 04:02, 21 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor in Chief: Cafer Zorkun, M.D., Ph.D. [2]
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Overview
History
Symptoms
Nephrogenic diabetes inspidus (NDI) is suspected in individuals with:
- Polyuria (excessive urine production)
- Polydipsia (excessive thirst)
In children,
- Vomiting
- Gagging or retching
- Poor feeding
- Constipation or diarrhea
- Failure to thrive
- Unexplained fevers
- Lethargy or irritability
Symptoms common to children and elderly are:
- Dehydration associated with hot environment, water deprivation, diarrhea or fever
- Seizures with rapid increase or decrease in serum osmolarity
In patients with partial NDI,
- Tend to be diagnosed in later childhood
- Usually do not have growth or developmental delay and are able to concentrate the urine in response to dehydration or DDAVP administration, but to a lesser extent than unaffected individuals.
Heterozygotes for X-linked NDI, may have no symptoms or variable degree of polyuria or polydipsia or may be as severely affected as males. In females heterozygous for AVPR2 mutations, a correlation between urine-concentrating ability (and symptoms) and skewed X-chromosome inactivation in leukocytes has been reported in one family [Nomura et al 1997, Kinoshita et al. 2004].