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Wilson Disease, Pediatric

Anthony F. Porto, MD, MPH Reviewed 10/2018
 


BASICS

DESCRIPTION

Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive disorder of copper transport affecting several organs, most notably the liver, brain, and ...

DIAGNOSIS

HISTORY

  • Issues with presentation of disease:

    • WD has a variable presentation that requires a high level of suspicion.

    • 45% of all patients present with liver disease, 35% with neurologic symptoms...

TREATMENT

  • Lifetime therapy aimed at treating copper overload

  • Consists of two phases

    • (1) Removing or detoxifying the tissue copper (achieved by chelators)

    • (2) Preventing reaccumulation without leading to ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Patients require lifelong dietary copper restriction and chelation therapy. Dosing of chelation therapy, although not zinc, needs to be adjusted...

ADDITIONAL READING

  • Ala A, Walker AP, Ashkan K, et al. Wilson’s disease. Lancet.  2007;369(9559):397–408. [View Abstract on OvidInsights]

  • Brewer GJ, Askari F, Dick RB, et al. Treatment of Wilson’s ...

CODES

ICD9

275.1 Disorders of copper metabolism 

ICD10

E83.01 Wilson’s disease 

SNOMED

88518009 Wilson’s disease (disorder) 

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