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戈谢病的口腔观察:文献综述及两例分别随访13年和60年的病例报告

Dental observations in Gaucher's disease: review of the literature and two case reports with 13- and 60-year follow-ups.

作者信息

Bender I B, Bender A L

机构信息

Department of Dentistry, Albert Einstein Medical Center, Philadelphia, Pa., USA.

出版信息

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996 Dec;82(6):650-9. doi: 10.1016/s1079-2104(96)80440-9.

Abstract

Gaucher's disease is a genetically determined inborn error of metabolism in which acid beta-glucosidase or one of its cofactors is absent or diminished in macrophage cells and cause an accumulation of glucosylceramide in these cells. These Gaucher cells accumulate in the organs of the reticuloendothelial system and cause varying degrees of splenomegaly, hepatomegaly, and encroachment of the marrow cavity of bones. Dental radiographs often reveal consistent bony changes that result from this encroachment. In cases where visceral signs are not apparent, dental radiographs can detect the presence of the disease. Because therapy is available, early recognition of this disorder may reduce overall morbidity. A review of the dental radiographic changes over as many as 60 years shows the effects of oral surgery procedures on bone degeneration and regeneration. The effects of mannose lectin acid beta-glucosidase, alglucerase on bone deposition are discussed. Finally, a literature review shows that the changes in the dental radiograph of patients with Gaucher's disease are very specific. Currently, this disorder and its associated molecular genetics are a prototype for research of new treatments such as allogenic bone marrow transplantation and molecularly engineered enzymes.

摘要

戈谢病是一种由基因决定的先天性代谢缺陷,其中酸性β-葡萄糖苷酶或其辅助因子之一在巨噬细胞中缺乏或减少,导致这些细胞中葡糖神经酰胺蓄积。这些戈谢细胞在网状内皮系统的器官中积聚,引起不同程度的脾肿大、肝肿大以及骨骨髓腔受压。牙科X光片常显示出由这种受压导致的一致性骨质改变。在内脏症状不明显的情况下,牙科X光片可检测出该疾病的存在。由于有治疗方法,早期识别这种疾病可能会降低总体发病率。对长达60年的牙科X光片变化的回顾显示了口腔外科手术对骨质退化和再生的影响。讨论了甘露糖凝集素酸性β-葡萄糖苷酶(阿糖苷酶)对骨沉积的影响。最后,一项文献综述表明,戈谢病患者牙科X光片的变化非常具有特异性。目前,这种疾病及其相关分子遗传学是同种异体骨髓移植和分子工程酶等新治疗方法研究的一个范例。

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