SICKLE CELL DISEASE: GENOTYPING CYP2D6 POLYMORPHISMS

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。该项目试图确定那些经历急性疼痛危机的镰状细胞疾病儿童是否对口服阿片类药物没有反应，是否代表了功能降低的CYP2D6等位基因儿童的亚群。我们的假设是，与口服阿片类药物有反应的儿童相比，通过CYP2D6途径代谢的口服阿片类药物失败后去急诊科就诊的儿童，功能等位基因减少的数量将高于预期。如果我们的假设是正确的，那么在口服门诊阿片类药物失败后出现的未来儿童可能会从基因测试和改变他们的门诊方案中受益。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The project seeks to determine whether those children with sickle cell disease who experience acute pain crises unresponsive to oral opioids may represent a subpopulation of children with reduced functioning CYP2D6 alleles. Our hypothesis is that children who present to the emergency department after having failed an oral opioid metabolized via the CYP2D6 pathway will have a higher than expected number of reduced functioning alleles compared to those who respond to oral opioids. If our hypothesis is true, then future children who present after failing oral outpatient opioids may benefit from genetic testing and alteration of their outpatient regimen.