Department of Pediatric Neurology, Fukuoka Children's Hospital, 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka, 813-0017, Japan.
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-8556, Japan.
J Inherit Metab Dis. 2018 Jul;41(4):745-746. doi: 10.1007/s10545-018-0155-6. Epub 2018 Feb 27.
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.
法布里病是一种可治疗的进行性遗传性疾病，在未经治疗的晚期病例中最终会导致多器官功能障碍。我们报告了一例经典的法布里病患儿，其表现为尿桑椹状细胞和无肾脏受累的体。本报告强调了尿显微镜检查结果在法布里病早期诊断中的有用性。
