Cardiomyopathy and skeletal myopathy in an unusual variant of GM1 gangliosidosis.
Cardiomyopathy and skeletal myopathy in an unusual variant of GM1 gangliosidosis.
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GM1 神经节苷脂沉积症的一种不寻常变异型心肌病和骨骼肌病。
DOI：
10.1016/s0022-3476(86)81054-x
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
M. Hvizd
中科院分区：
文献类型：
--
作者：
J. Charrow;M. Hvizd
第108卷临床和实验室观察7 2 9 5号，第1部分可能涉及不同的亚型。根据这些代谢物的分子特性，可能导致肾小球毛细血管基底膜的电荷选择性屏障的扭曲，这取决于硫酸乙酰肝素蛋白聚糖的正常含量。我们推测，这发生在我们的7例赫尔勒综合征患者中的2例。其他5例患者无蛋白尿可能反映了其疾病严重程度和范围的变化。存在这种变异的形态学证据，因为在4例中观察到空泡化足细胞，而在其余3例中未观察到。也许所有Hurler综合征患者肾小球毛细血管基底膜的硫酸乙酰肝素蛋白多糖含量都异常，但只有部分患者严重到足以产生蛋白尿和肾病综合征。
Volume 108 Clinical and laboratory observations 7 2 9 Number 5, Part 1 may be involved in the different subtypes. Depending on the molecular properties Of such metabolites, a distortion of the charge-selective barrier of the glomerular capillary basement membrane, which depends on a normal content of heparan sulfate proteoglycans, may result. We speculate that this occurred in two of our seven patients with Hurler syndrome. The absence of proteinuria in the other five patients may reflect variation in the severity and extent of their disease. Morphologic evidence exists for such variation, because vacuolated podocytes were seen in four cases but not in the remaining three. Perhaps the heparan sulfate proteoglycan content of glomerular capillary basement membranes of all patients with Hurler syndrome is abnormal, but in only some is it severe enough to produce proteinuria and a nephrotic syndrome.