[Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980) (author's transl)].
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.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male
La malattia di Gaucher. Considerazioni su 17 casi studiati nel decennio 1970-1980.