Lee R E
Prog Clin Biol Res. 1982;95:177-217.
Several features of Gaucher disease have been described related to an experience gained from a study of 275 patients. These include splenic nodules, a nodular form of cirrhosis affecting the liver of patients who have severe disease as well as unsuspected involvement of the brain. The anatomic distribution of Gaucher cells in the brain may be an age related phenomenon. Various types of involvement of the lungs can produce severe cyanosis or cor pulmonale according to the anatomic distribution of the Gaucher cells. The belief that bone disease can be produced by prior splenectomy was dispelled by a study of 239 patients with type I and type III disease. The reasons for the association of malignant tumors with older patients who have type I disease is not understood but should encourage careful follow-up of these patients. As we enter the second century of our knowledge of this disease we should keep Dr. Gaucher's talent of making careful clinicopathological observations in mind as we search for clues to the better understanding of the various clinical forms of the disease.
根据对275例患者的研究所得经验，已描述了戈谢病的几个特征。这些特征包括脾结节、一种影响重症患者肝脏的结节性肝硬化形式，以及脑部未被怀疑的受累情况。脑中戈谢细胞的解剖分布可能是一种与年龄相关的现象。根据戈谢细胞的解剖分布，肺部的各种受累类型可导致严重的发绀或肺心病。一项对239例I型和III型疾病患者的研究消除了认为脾切除术前会出现骨病的观点。I型疾病老年患者与恶性肿瘤相关联的原因尚不清楚，但这应促使对这些患者进行仔细的随访。当我们进入对这种疾病认识后的第二个世纪时，在我们寻找线索以更好地理解该疾病的各种临床形式时，应牢记高歇医生进行仔细临床病理观察的才能。
