D'Agrosa M C, Deteix P, Fonck Y, Clavelou P, Cluzel P, Betail G, Tournilhac M, Baguet J C
Service de Néphrologie, Hôpital Saint-Jacques, Clermont-Ferrand.
Nephrologie. 1988;9(6):269-72.
A renal biopsy was performed in a 41 year old man with Refsum's disease, following the onset of renal failure. 30% of the glomeruli were sclerosed, the others appeared normal. Ultrastructural examination revealed several types of inclusions within the tubular epithelial cells: dense bodies, simple or complex lipidic vacuoles and particularly structures composed of quadrangular microtubules with sides measuring 400 angstrom, rarely encountered in renal pathology. These dense elements, devoid of membrane and often in close contact with lipidic vacuoles, are found within the epithelial cells of the distal convoluted tubules and Henle's loops. They were localized extramitochondrially and no specimen was suggestive of a degraded form of the mitochondria. Some analogy can be made with the renal inclusions observed in Gaucher's disease.
一名41岁患有Refsum病的男性在出现肾衰竭后接受了肾活检。30%的肾小球硬化,其余看起来正常。超微结构检查显示肾小管上皮细胞内有几种类型的包涵体:致密小体、简单或复杂的脂质空泡,特别是由边长为400埃的四边形微管组成的结构,这在肾脏病理学中很少见。这些致密成分没有膜,且常常与脂质空泡紧密接触,存在于远曲小管和髓袢升支粗段的上皮细胞内。它们定位于线粒体外,且没有标本提示线粒体有降解形式。这与戈谢病中观察到的肾脏包涵体有一些相似之处。