Eskes Eline C B, van der Lienden Martijn J C, Roelofs Joris J T H, Vogt Liffert, Aerts Johannes M F G, Aten Jan, Hollak Carla E M
Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
Department of Pathology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.
JIMD Rep. 2021 Jul 26;62(1):15-21. doi: 10.1002/jmd2.12242. eCollection 2021 Nov.
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral subtype who developed proteinuria and renal insufficiency at the age of 49. In renal tissue, foam cells were observed in the glomeruli as well as sphingomyelin accumulation within podocytes, mesangial cells, endothelial cells, and tubular epithelial cells. Although macrophages are the primary storage cells in both ASMD and Gaucher disease, comparison to the histopathological findings in Gaucher and Fabry disease revealed a diffuse storage pattern in multiple renal cell types, closer resembling the pattern found in Fabry disease.
酸性鞘磷脂酶缺乏症（ASMD）是一种溶酶体贮积病（LSD），由于酸性鞘磷脂酶缺乏，鞘磷脂会蓄积。在慢性内脏亚型中，器官表现通常局限于脾脏、肝脏和肺部。我们报告了一名患有慢性内脏亚型的男性患者，他在49岁时出现蛋白尿和肾功能不全。在肾组织中，肾小球内观察到泡沫细胞，足细胞、系膜细胞、内皮细胞和肾小管上皮细胞内也有鞘磷脂蓄积。虽然巨噬细胞是ASMD和戈谢病的主要贮积细胞，但与戈谢病和法布里病的组织病理学结果相比，发现多种肾细胞类型存在弥漫性贮积模式，更类似于法布里病中的模式。
