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

作者:Chong Pin Fee*; Nakamura Kimitoshi; Kira Ryutaro
来源:Journal of Inherited Metabolic Disease, 2018, 41(4): 745-746.
DOI:10.1007/s10545-018-0155-6

摘要

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.

  • 出版日期2018-7

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