Shimohata Homare, Maruyama Hiroshi, Miyamoto Yasunori, Takayasu Mamiko, Hirayama Kouichi, Kobayashi Masaki
Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, 3-20-1 Chuo, Ami, Inashiki, 300-0395, Ibaraki, Japan.
CEN Case Rep. 2017 Nov;6(2):148-151. doi: 10.1007/s13730-017-0262-5. Epub 2017 Jun 7.
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 show primarily cardiac and/or renal symptoms that appear in adulthood; this is called the variant type or the late-onset type. The kidney and heart are the major target organs, with damage to these organs related to mortality. Thus, in Fabry patients, early detection and early treatment are critical to longevity. Here, we present a 55-year-old Japanese male patient who was diagnosed with late-onset Fabry nephropathy with cardiomyopathy but with no abnormal urinary findings except for urinary mulberry cells and mulberry bodies. In spite of the absence of abnormal urinary findings, the light microscopic and electron microscopic pathological findings showed extensive deposition of globotriaosylceramide to podocytes. In this paper, we propose that the presence of mulberry cells and mulberry bodies can be used for the earlier detection of Fabry nephropathy, especially the late-onset type.
法布里病是一种X连锁溶酶体贮积症，由α-半乳糖苷酶A活性缺乏所致，导致球三糖神经酰胺在多个器官蓄积。半合子男性完全缺乏α-半乳糖苷酶A活性是典型表型，部分半合子男性主要表现为成年期出现的心脏和/或肾脏症状；这被称为变异型或迟发型。肾脏和心脏是主要靶器官，这些器官的损害与死亡率相关。因此，在法布里病患者中，早期检测和早期治疗对延长寿命至关重要。在此，我们报告一名55岁的日本男性患者，他被诊断为迟发型法布里肾病合并心肌病，但除了尿桑葚细胞和桑葚体外，尿液检查无异常发现。尽管尿液检查无异常发现，但光镜和电镜病理检查结果显示球三糖神经酰胺广泛沉积于足细胞。在本文中，我们提出桑葚细胞和桑葚体的存在可用于法布里肾病尤其是迟发型的早期检测。
