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:

In children,

Symptoms common to children and elderly are:

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


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