Mulberries in the urine: a tell-tale sign of Fabry disease

J Inherit Metab Dis. 2018 Jul;41(4):745-746. doi: 10.1007/s10545-018-0155-6. Epub 2018 Feb 27.

Abstract

Fabry disease is a treatable progressive illness of inborn error causing eventual multiple organ dysfunction in advanced untreated cases. We report on a classic Fabry child patient presenting with urinary mulberry cells and bodies without renal involvement. This report emphasizes the usefulness of urinary microscopic findings in the early diagnosis of Fabry disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Early Diagnosis
  • Fabry Disease / diagnosis*
  • Fabry Disease / urine
  • Humans
  • Male
  • Pain / etiology
  • Urinalysis
  • Urine / cytology