Di Rocco M, Salemi D, Borrone C
Pediatr Med Chir. 1981 Nov-Dec;3(6):487-94.
We report follow-up studies of 17 patients with Gaucher disease observed over nearly 10 years. According to the classical subdivision in three clinical forms our cases are: 10 patients with the type 1, chronic, non neuronopathic form; 3 with type 2, acute, neuronopathic form; 4 with type three, subacute, neuronopathic form. Varying degrees of clinical severity and involvement of visceral organs and bones were observed. Possible molecular bases for the heterogeneity of pathology observed are discussed. Two prenatal diagnoses monitored in the same at risk family are reported. Observations of Brady suggesting that enzyme replacement may be useful for treatment of type 1 patients are discussed.
我们报告了对17例戈谢病患者进行近10年的随访研究。根据三种临床类型的经典分类，我们的病例为：10例1型慢性非神经病变型；3例2型急性神经病变型；4例3型亚急性神经病变型。观察到了不同程度的临床严重程度以及内脏器官和骨骼受累情况。讨论了所观察到的病理异质性可能的分子基础。报告了在同一个高危家庭中进行的两次产前诊断。讨论了布雷迪的观察结果，即酶替代疗法可能对1型患者的治疗有用。
