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fabry disease/mûrier
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Mulberries in the urine: a tell-tale sign of Fabry disease.
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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 mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease.
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Fabry disease is an X-linked lysosomal storage disorder caused by a lack of α-galactosidase A activity, which leads to the accumulation of globotriaosylceramide in various organs. A complete lack of α-galactosidase A activity in a hemizygous male is the classical phenotype, and some hemizygous males
A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells.
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Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A
A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.
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Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage
Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease.
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Mulberry cells are often present in the urinary sediments of patients with Fabry disease (FD). We herein report two patients with FD undergoing enzyme replacement therapy (ERT). A 41-year-old man was diagnosed based on lack of α-galactosidase A activity. ERT was subsequently administered. A
Mulberry Bodies: Fabry Disease.
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Fabry Disease Diagnosed Based on the Detection of Urinary Mulberry Bodies.
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Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy.
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Fabry disease is an X-linked inherited lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, resulting in the intracellular accumulation of globotriaosylceramide and related glycosphingolipids. The phenotypes of Fabry disease in both males and females are grouped into two
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