Mulberries in the urine: a tell-tale sign of Fabry disease
Mulberries in the urine: a tell-tale sign of Fabry disease
复制标题
尿液中含有桑葚：法布里病的明显征兆
DOI：
10.1007/s10545-018-0155-6
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发表时间：
2018
影响因子：
4.2
通讯作者：
Kira Ryutaro
中科院分区：
文献类型：
--
作者：
Chong Pin Fee;Nakamura Kimitoshi;Kira Ryutaro
法布里病是一种可治疗的进行性疾病，先天性错误导致晚期未经治疗的患者最终出现多器官功能障碍。我们报告一个典型的法布里儿童患者表现为尿桑细胞和体没有肾脏受累。本报告强调尿镜检查在法布里病早期诊断中的作用。
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.