Smith R L, Hutchins G M, Sack G H, Ridolfi R L
Am J Med. 1978 Aug;65(2):352-60. doi: 10.1016/0002-9343(78)90832-x.
A 25 year old black woman who had manifestations of Gaucher's disease since one year of age is described. This patient had clinically significant cardiac, renal and pulmonary involvement with Gaucher's disease. Interstitial infiltration of the myocardium by Gaucher cells caused decreased left ventricular compliance and decreased cardiac output. In the kidney, Gaucher cells were present in the mesangium of the glomeruli and the interstitium of the cortex. Also, electron dense, intramembranous granular deposits were seen in glomeruli on electron microscopy. The pulmonary findings included pulmonary arterial hypertension, accentuated basilar deposition of glucocerebroside in the interstitium of alveolar septums and fatal bone marrow embolization.
本文描述了一位自一岁起就有戈谢病表现的25岁黑人女性。该患者出现了临床上显著的戈谢病累及心脏、肾脏和肺部的情况。戈谢细胞对心肌的间质浸润导致左心室顺应性降低和心输出量减少。在肾脏中，戈谢细胞存在于肾小球系膜和皮质间质中。此外，电子显微镜检查发现肾小球中有电子致密的膜内颗粒沉积物。肺部表现包括肺动脉高压、肺泡间隔间质中葡糖脑苷脂基底沉积加重以及致命的骨髓栓塞。
