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Abnormality of urine homeostasis

MedGen UID:
871178
•Concept ID:
C4025655
•
Finding
Synonyms: Pee issues; Urine issues
 
HPO: HP:0003110

Definition

An abnormality of the composition of urine or the levels of its components. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of urine homeostasis

Conditions with this feature

Essential pentosuria
MedGen UID:
78646
•Concept ID:
C0268162
•
Disease or Syndrome
Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in individuals of Ashkenazi Jewish descent (summary by Hiatt, 2001).
See: Condition Record
Essential pentosuria

Professional guidelines

PubMed

Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
Bockenhauer D, Bichet DG
Nat Rev Nephrol 2015 Oct;11(10):576-88. Epub 2015 Jun 16 doi: 10.1038/nrneph.2015.89. PMID: 26077742
Cerebral salt wasting: pathophysiology, diagnosis, and treatment.
Yee AH, Burns JD, Wijdicks EF
Neurosurg Clin N Am 2010 Apr;21(2):339-52. doi: 10.1016/j.nec.2009.10.011. PMID: 20380974
Diagnosis and management of hyponatraemia in hospitalised patients.
Reddy P, Mooradian AD
Int J Clin Pract 2009 Oct;63(10):1494-508. doi: 10.1111/j.1742-1241.2009.02103.x. PMID: 19769706

Recent clinical studies

Diagnosis

Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4.
Sanford E, Wong T, Ellsworth KA, Ingulli E, Kingsmore SF
Cold Spring Harb Mol Case Stud 2020 Aug;6(4) Epub 2020 Aug 25 doi: 10.1101/mcs.a005470. PMID: 32843431Free PMC Article

Supplemental Content

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    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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