title: The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria.
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.
authors.affiliation: Department of Pediatrics, Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: Soofia
authors.initials: S
authors.lastname: Khan
authors.affiliation: Department of Gastroenterology, Yale University Medical Center, New Haven, CT, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Schilsky
authors.affiliation: Department of Pediatrics, Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Silber
authors.affiliation: Department of Pediatrics, Roseman University of Health Sciences, Las Vegas, NV, USA.
authors.forename: Bruce
authors.initials: B
authors.lastname: Morgenstern
authors.affiliation: Department of Pediatrics, Texas Children's Hospital, Houston, TX, USA.
authors.forename: Tamir
authors.initials: T
authors.lastname: Miloh
keywords: Alport syndrome; Copper; Glomerulopathy; Proteinuria; Wilson; Zinc