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首页> 外文期刊>CEN Case Reports >Fabry’s disease discovered with chance urinary mulberry cells: a case report
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Fabry’s disease discovered with chance urinary mulberry cells: a case report

机译：法布里氏病偶然发现尿桑树细胞：一例病例报告

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摘要

Fabry’s disease (FD) is a rare X-linked lysosomal storage disorder. Novel enzyme replacement therapy (ERT) at an early stage can slow the progression of cardiovascular and renal dysfunction. Urinary mulberry cells are occasionally found in renal FD. We report a case of variant FD in which detection of urinary mulberry cells led to an early diagnosis. A 36-year-old Japanese man was referred to our hospital because mulberry cells had been detected during urinalysis. Proteinuria and renal dysfunction were not observed. His plasma alpha-galactosidase activity was very low. Renal biopsy revealed typical foamy changes in the glomerular podocytes and tubular epithelial cells that are found in renal FD. Based on the detection of urinary mulberry cells, we successfully started ERT before the patient’s renal function deteriorated. Clinical nephrologists and laboratory technicians should recognize the importance of screening for mulberry cells during urinalysis as this is a simple, inexpensive, and non-invasive method for diagnosing FD.
机译：法布里氏病（FD）是一种罕见的X连锁溶酶体贮积病。早期的新型酶替代疗法（ERT）可以减缓心血管和肾脏功能障碍的进展。肾脏FD中偶尔发现尿桑树细胞。我们报告了一个变体FD病例，其中检测到尿桑树细胞导致了早期诊断。一名36岁的日本男子被转诊到我们医院，因为在尿液分析过程中检测到桑树细胞。未观察到蛋白尿和肾功能障碍。他的血浆α-半乳糖苷酶活性非常低。肾脏活检显示肾FD中发现的肾小球足细胞和肾小管上皮细胞典型的泡沫变化。基于尿液桑树细胞的检测，我们在患者肾功能恶化之前成功启动了ERT。临床肾脏病学家和实验室技术人员应认识到在尿液分析中筛检桑树细胞的重要性，因为这是诊断FD的简单，廉价且非侵入性的方法。

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  • 来源
    《CEN Case Reports》 |2013年第1期|49-52|共4页
  • 作者

    Takashi Nakamichi; Mariko Miyazaki; Keisuke Nakayama; Mitsuhiro Sato; Naoki Akiu; Toshinobu Sato; Hiroshi Sato; Sadayoshi Ito;

  • 作者单位

    Division of Nephrology Endocrinology and Vascular Medicine Tohoku University Graduate School of Medicine">(1);

    Division of Nephrology Endocrinology and Vascular Medicine Tohoku University Graduate School of Medicine">(1);

    Division of Nephrology Endocrinology and Vascular Medicine Tohoku University Graduate School of Medicine">(1);

    Department of Nephrology Sendai Shakaihoken Hospital">(2);

    Department of Internal Medicine Sendai City Hospital">(3);

    Department of Nephrology Sendai Shakaihoken Hospital">(2);

    Division of Nephrology Endocrinology and Vascular Medicine Tohoku University Graduate School of Medicine">(1);

    Division of Nephrology Endocrinology and Vascular Medicine Tohoku University Graduate School of Medicine">(1);

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  • 原文格式 PDF
  • 正文语种 eng
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  • 关键词

    Fabry’s disease; Enzyme replacement therapy; Mulberry cell;

    机译：法布里氏病;酶替代疗法;桑树细胞;

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