Journal of Inherited Metabolic Disease 2018-Jul
Mulberries in the urine: a tell-tale sign of Fabry disease.
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概要
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.