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Increased urinary copper concentration

MedGen UID:
869263
Concept ID:
C4023688
Finding
HPO: HP:0010839

Definition

An increased concentration of copper in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased urinary copper concentration

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.

Professional guidelines

PubMed

Yamashita K, Ogihara T, Hayashi M, Nakagawa T, Ishizaki Y, Kume M, Yano I, Niigata R, Hiraoka J, Yasui H, Nakamura T
Pharmazie 2020 May 1;75(5):218-222. doi: 10.1691/ph.2020.0341. PMID: 32393433
Pfeiffenberger J, Lohse CM, Gotthardt D, Rupp C, Weiler M, Teufel U, Weiss KH, Gauss A
J Inherit Metab Dis 2019 Mar;42(2):371-380. Epub 2019 Feb 11 doi: 10.1002/jimd.12046. PMID: 30746719
Medici V, Rossaro L, Sturniolo GC
Dig Liver Dis 2007 Jul;39(7):601-9. Epub 2007 Mar 26 doi: 10.1016/j.dld.2006.12.095. PMID: 17382611

Recent clinical studies

Etiology

Wattacheril J, Shea PR, Mohammad S, Behling C, Aggarwal V, Wilson LA, Yates KP, Ito J, Fishbein M, Stong N, Lavine JE, Goldstein DB
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003087. PMID: 30026388Free PMC Article

Diagnosis

Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005306. PMID: 32532881Free PMC Article
Wattacheril J, Shea PR, Mohammad S, Behling C, Aggarwal V, Wilson LA, Yates KP, Ito J, Fishbein M, Stong N, Lavine JE, Goldstein DB
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003087. PMID: 30026388Free PMC Article

Therapy

Wattacheril J, Shea PR, Mohammad S, Behling C, Aggarwal V, Wilson LA, Yates KP, Ito J, Fishbein M, Stong N, Lavine JE, Goldstein DB
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003087. PMID: 30026388Free PMC Article

Supplemental Content

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