SICKLE CELL DISEASE: GENOTYPING CYP2D6 POLYMORPHISMS

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心机构，不一定为研究者机构。该项目旨在确定那些对口服阿片类药物无反应的镰状细胞病儿童是否可能代表CYP 2D 6等位基因功能降低的儿童亚群。我们的假设是，与口服阿片类药物有反应的儿童相比，口服阿片类药物经CYP 2D 6途径代谢失败后到急诊室就诊的儿童，其功能降低的等位基因数量将高于预期。如果我们的假设是真的，那么未来的儿童谁失败后，口服门诊阿片类药物可能会受益于基因检测和改变他们的门诊治疗方案。

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.