Shinohara O, Kubota C, Kimura M, Nishimura G, Takahashi S
Department of Pediatrics, Tokai University School of Medicine, Kanagawa, Japan.
Am J Med Genet. 1991 Dec 15;41(4):482-6. doi: 10.1002/ajmg.1320410421.
We report on 5-year-old girl with essential osteolysis, nephropathy, corneal opacity, and valvular pulmonary stenosis. The patient was initially seen for evaluation of flexion contractures at wrists, elbows, and knees. Radiographic examination showed osteolytic changes primarily involving the hands and feet. She had persistent proteinuria; renal biopsy disclosed focal glomerulosclerosis in 1/3 of glomeruli. Electron microscopic study of skin fibroblast showed dilated and vacuolated rough endoplasmic reticulum. To our knowledge essential osteolysis associated with the aforementioned disorders has not been previously reported.
我们报告了一名患有原发性骨质溶解、肾病、角膜混浊和肺动脉瓣狭窄的5岁女孩。该患者最初因手腕、肘部和膝盖的屈曲挛缩前来评估。影像学检查显示骨质溶解改变主要累及手足。她有持续性蛋白尿；肾活检显示1/3的肾小球有局灶性肾小球硬化。皮肤成纤维细胞的电子显微镜研究显示粗面内质网扩张和空泡化。据我们所知，与上述疾病相关的原发性骨质溶解此前尚未见报道。
