Pediatr Gastroenterol Hepatol Nutr.  2016 Jun;19(2):139-142. 10.5223/pghn.2016.19.2.139.

The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria

• Khan S
• Schilsky M
• Silber G
• Morgenstern B
• Miloh T

• KMID: 2328175
• DOI: http://doi.org/10.5223/pghn.2016.19.2.139

Abstract

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.

Keyword

Wilson; Glomerulopathy; Copper; Alport syndrome; Proteinuria; Zinc

MeSH Terms

Blood Proteins
Ceruloplasmin
Copper
Diagnosis
Dyslipidemias
Genetics
Hepatolenticular Degeneration*
Humans
Liver
Metals, Heavy
Nephritis, Hereditary
Prognosis
Proteinuria*
Transaminases
Zinc
Blood Proteins
Ceruloplasmin
Copper
Metals, Heavy
Transaminases
Zinc

Figure

• 

  Fig. 1 Mild periportal inflammatory infiltrate composed of lymphocytes as well as the micro/macrovesicular steatosis. Provided by Department of Pathology, Phoenix Children's Hospital (H&E stain, ×200).

• 

  Fig. 2 In above picture, blue stained collagen is forming early bridging in the liver. Provided by Department of Pathology, Phoenix Children's Hospital (trichrome stain, ×40).

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