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Many inherited disorders of metabolism can lead to accumulation of storage products in cells, as seen here with Gaucher's disease involving spleen. The large pale cells contain an accumulated storage product from lack of an enzyme.

许多遗传性疾病导致细胞内物质沉积。图示:戈谢病病人脾脏大的苍白色细胞内物质沉积。

戈谢病(Gaucher's disease)是一种常染色体隐性遗传的溶酶体贮积病.病因是1q21染色体上基因变异所致的葡糖脑苷脂酶缺乏引起葡糖脑苷脂在巨噬细胞中大量沉积.血清血管紧张素转换酶、酸性磷酸酶、血清铁蛋白水平升高和血小板减少都有诊断意义,病理活检发现戈谢细胞可作为确诊依据,分子酶学分析是诊断戈谢病的金标准.磁共振成像和超声心动图是重要的影像学检查手段.以往戈谢病治疗主要为支持疗法,酶替代疗法与双磷酸联用,可以预防和治疗戈谢病患者的骨疾病.前列环素可以配合酶替代疗法治疗戈谢病患者的肺间质病变.酶替代疗法对神经系统功能的改善不明显,基因治疗已成为研究热点.">戈谢病(Gaucher's disease)是一种常染色体隐性遗传的溶酶体贮积病.病因是1q21染色体上基因变异所致的葡糖脑苷脂酶缺乏引起葡糖脑苷脂在巨噬细胞中大量沉积。

The yellow-brown granular pigment seen in the hepatocytes here is lipochrome (lipofuscin) which accumulates over time in cells (particularly liver and heart) as a result of "wear and tear" with aging. It is of no major consequence, but illustrates the end result of the process of autophagocytosis in which intracellular debris is sequestered and turned into these residual bodies of lipochrome.

图示:肝细胞脂褐素沉着

肝细胞中可见黄褐色颗粒,脂褐素沉着随着年令的增长而加重,是细胞自噬溶酶体内未被消化的细胞器碎片残体。多发生于肝脏和心脏。

The brown coarsely granular material in macrophages in this alveolus is hemosiderin that has accumulated as a result of the breakdown of RBC's and release of the iron in heme. The macrophages clear up this debris, which is eventually recycled.

图示:肺泡内巨噬细胞含铁血黄素沉着(呈褐色粗糙颗粒)

是红细胞血红蛋白降解后所产生和释放的。巨噬细胞能吞噬清除这种碎片,并使之得以循环利用。

A Prussian blue reaction is seen in this iron stain of the liver to demonstrate large amounts of hemosiderin that are present in hepatocytes and Kupffer cells.

肝脏普鲁士蓝染色呈蓝色的含铁血黄素颗粒大量沉着在肝实质细胞和库普弗细胞内。

These renal tubules contain large amounts of hemosiderin, as demonstrated by an iron stain.

图示:肾小管内含有大量含铁血黄素颗粒。

The sclera of the eye is yellow because the patient has jaundice, or icterus. The normally white sclerae of the eyes is a good place on physical examination to look for icterus.

图示:黄疸病人巩膜黄染

因正常巩膜呈白色,因此是检查黄疸的很好部位。

The yellow-green globular material seen in small bile ductules in the liver here is bilirubin pigment.

图示:肝脏小胆管内可见黄绿色球状物,其为胆红素。

Increased amounts of circulating bilirubin in the blood can lead to the physical examination finding of "icterus" or jaundice as seen here from the yellowish hue of the skin. The easiest place to see icterus is on the sclera of the eye.

较重黄疸病人大量的胆红素在血液中循环导致皮肤黄染,在体格检查中容易发现,最容易观察的部位在巩膜。

The black streaks seen between lobules of lung beneath the pleural surface are due to anthracotic pigment. This anthracosis of the lung is not harmful and comes from the carbonaceous material breathed in from dirty air typical of industrialized regions of the planet.

图示:胸膜下肺小叶间可见黑色条纹(碳末沉着)

碳末沉着是由于生活在染污严重的工业区长期吸入含碳物质后沉积在肺而形成的,对机体的影响较小。

 

Here is anthracotic pigment in macrophages in a hilar lymph node. Anthracosis is nothing more than accumulation of carbon pigment from breathing dirty air. Smokers have the most pronounced anthracosis. The anthracotic pigment looks bad, but it causes no major organ dysfunction.

图示:肺门淋巴结巨噬细胞碳末沉着

由于呼吸污染空气导致的碳末沉着症并不多见,吸烟会引起更明显的碳末沉着症。碳末沉着好象对机体影响很大,但是一般不引起主要器官的功能障碍。


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