Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Br J Haematol. 2021 Jul;194(2):469-473. doi: 10.1111/bjh.17647. Epub 2021 Jun 16.
Albuminuria predicts kidney disease progression in individuals with sickle cell anaemia (SCA); however, earlier prediction of kidney disease with introduction of reno-protective therapies prior to the onset of albuminuria may attenuate disease progression. A genetic risk score (GRS) for SCA-related nephropathy may provide an improved one-time test for early identification of high-risk patients. We utilized a GRS from a recent, large, trans-ethnic meta-analysis to identify three single nucleotide polymorphisms that associate individually and in a GRS with time to first albuminuria episode in children with SCA.
蛋白尿可预测镰状细胞贫血(SCA)患者的肾脏疾病进展;然而,在蛋白尿发生前引入肾脏保护疗法以更早地预测肾脏疾病,可能会减缓疾病进展。SCA 相关肾病的遗传风险评分(GRS)可能为早期识别高危患者提供一种改进的一次性检测方法。我们利用最近一项大型跨种族荟萃分析的 GRS,确定了三个单核苷酸多态性,这些多态性可单独和在 GRS 中与 SCA 儿童首次出现蛋白尿的时间相关。