The challenges of diagnosing and following Wilson disease in the presence of proteinuria

Soofia Khan, Michael Schilsky, Gary Silber, Bruce Morgenstern, Tamir Miloh

Research output: Contribution to journalArticlepeer-review


The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics.

Original languageEnglish (US)
Pages (from-to)139-142
Number of pages4
JournalPediatric Gastroenterology, Hepatology and Nutrition
Issue number2
StatePublished - 2016
Externally publishedYes


  • Alport syndrome
  • Copper
  • Glomerulopathy
  • Proteinuria
  • Wilson
  • Zinc

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hepatology
  • Gastroenterology


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