Stirnemann J, Belmatoug N
Service de médecine interne, hôpital Jean-Verdier, avenue du 14 Juillet, 93143 Bondy, France.
Rev Med Interne. 2001 Dec;22 Suppl 3:374s-383s.
This review presents the clinical, biological and therapeutic aspects of adult Gaucher disease.
Gaucher disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta-glucocerebrosidase. The enzymatic defect leads to the accumulation of the lipid glucocerebroside in liver, spleen and bone marrow. Patients with Gaucher disease have been classified into three types. Type 1 is the most frequent and non-neuronopathic, with enlarged liver and spleen and bone damage. Biological abnormalities are found: visceral infiltration (pancytopenia, cholestasis), macrophage damage (angiotensin-converting enzyme increase, ferritin increase, immunoglobulin increase, hemostasis abnormalities) and lysosomal damage (acid phosphatase tartrate-resistant increase, chitotriosidase increase). Enzyme replacement therapy has become available, has proven effectiveness in many patients and has successfully reversed many of the manifestations of the disorder.
The new biological abnormalities must help in treatment management. Gene transfer and oral treatment must be taken into account and validated in large clinical studies.
本综述介绍成人戈谢病的临床、生物学及治疗方面的情况。
戈谢病是一种罕见的常染色体隐性遗传病，因溶酶体酶β-葡萄糖脑苷脂酶活性不足所致。酶缺陷导致脂类葡萄糖脑苷脂在肝脏、脾脏和骨髓中蓄积。戈谢病患者已被分为三型。1型最为常见且无神经病变，表现为肝脏和脾脏肿大以及骨骼损害。存在生物学异常：内脏浸润（全血细胞减少、胆汁淤积）、巨噬细胞损害（血管紧张素转换酶升高、铁蛋白升高、免疫球蛋白升高、止血异常）和溶酶体损害（抗酒石酸酸性磷酸酶升高、壳三糖苷酶升高）。酶替代疗法已可应用，在许多患者中已证实有效，并成功逆转了该疾病的许多表现。
新发现的生物学异常必定有助于治疗管理。基因转移和口服治疗必须加以考虑，并在大型临床研究中得到验证。
