Baldellou Vázquez A
An Esp Pediatr. 1983 Sep;19 Suppl 18:71-83.
A general review of the multiple up to date therapeutic trends in this field is intended based on new available technology and on a better knowledge of genetic disease physiopathology. Three possible systems to control patients with inheritable disease deduced of our own experience and on literature are analyzed. Cure by correction, replacement or genetic manipulation; Therapy by enzymatic manipulation, biochemical correction or surgical treatment Prevention by genetic counseling and discovery of pharmacogenetic patterns and higs risk populations. The wide perspectives opened to the next future compelled to an exhaustive diagnosis of patients, considering possibilities of reasonable therapy.
基于新的可用技术以及对遗传性疾病生理病理学的更深入了解,旨在对该领域多种最新治疗趋势进行全面综述。分析了根据我们自己的经验和文献推导出来的三种控制遗传性疾病患者的可能系统。通过纠正、替代或基因操作进行治愈;通过酶操作、生化纠正或手术治疗进行治疗;通过遗传咨询以及发现药物遗传学模式和高危人群进行预防。未来广阔的前景促使我们对患者进行详尽的诊断,同时考虑合理治疗的可能性。