Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Drugs. 2012 May 7;72(7):895-906. doi: 10.2165/11632890-000000000-00000.
Early identification of infants with sickle cell disease (SCD) by newborn screening, now universal in all 50 states in the US, has improved survival, mainly by preventing overwhelming sepsis with the early use of prophylactic penicillin. Routine transcranial Doppler screening with the institution of chronic transfusion decreases the risk of stroke from 10% to 1% in paediatric SCD patients. Hydroxyurea decreases the number and frequency of painful crises, acute chest syndromes and number of blood transfusions in children with SCD. Genetic research continues to be driven toward the prevention and ultimate cure of SCD before adulthood. This review focuses on clinical manifestations and therapeutic strategies for paediatric SCD as well as the evolving topic of gene-focused prevention and therapy.
通过新生儿筛查，早期识别镰状细胞病（SCD）患儿在全美 50 个州已普遍实施，这一举措提高了生存率，主要通过早期预防性使用青霉素来预防严重败血症。通过常规经颅多普勒筛查并进行慢性输血，可以将儿科 SCD 患者的中风风险从 10%降低至 1%。羟基脲可减少 SCD 患儿疼痛危象、急性胸部综合征和输血次数。遗传研究不断推动 SCD 的预防和成年前的根治。这篇综述重点介绍了儿科 SCD 的临床表现和治疗策略，以及基因靶向预防和治疗这一不断发展的话题。
