Gupta Neerja, Kabra Madhulika
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.
Indian Pediatr. 2007 May;44(5):361-9.
There is no cure for most of the genetic disorders. The only option in most situations is prevention by counseling and prenatal diagnosis. However, over a decade, with the completion of the human genome project and other advances there is better understanding of pathogenesis, improvement in diagnostic strategies and various treatment avenues are opening up for these disorders. The aim of this article is to make the pediatricians aware of the approaches to treatment of common genetic disorders and recent available therapeutic interventions.
大多数遗传性疾病无法治愈。在大多数情况下,唯一的选择是通过遗传咨询和产前诊断进行预防。然而,在过去十多年里,随着人类基因组计划的完成和其他进展,人们对发病机制有了更深入的了解,诊断策略得到了改进,针对这些疾病的各种治疗途径也正在开辟。本文旨在让儿科医生了解常见遗传性疾病的治疗方法以及最近可用的治疗干预措施。