Sferra T J, Collins F S
Department of Human Genetics, University of Michigan, Ann Arbor 48109.
Annu Rev Med. 1993;44:133-44. doi: 10.1146/annurev.me.44.020193.001025.
Cystic fibrosis afflicts many children and, as the life expectancy for patients with this disease steadily increases, many adults as well. The identification and characterization of the gene responsible for this disorder provide a basis for understanding the pathophysiology of cystic fibrosis. Basic science advances are rapidly being integrated into the diagnostic and therapeutic regimens used by physicians in the care of patients with this disease.
囊性纤维化折磨着许多儿童，而且随着这种疾病患者的预期寿命稳步增加，也折磨着许多成年人。对导致这种疾病的基因进行鉴定和特征描述，为理解囊性纤维化的病理生理学提供了基础。基础科学的进展正在迅速融入医生在治疗这种疾病患者时所使用的诊断和治疗方案中。
