Combined effects of modifier genes on sickle cell nephropathy

Modifier genes could have an effect on sickle cell nephropathy. Patient recruitment was carried out from January 1 to August 31, 2019 at the «Centre National de Transfusion Sanguine» (CNTS) in Dakar, Senegal's reference center for the care of adults living with SCD, and at the «Unité de Soins Ambulatoires des enfants et adolescents atteints de Drépanocytose» (USAD) located at the «Centre Hospitalier National d’Enfants Albert Royer (CHNEAR)» in Dakar, the Senegal’s reference center for the care of children and adolescents living with SCD. The data shows that : Senegal haplotype is the most prevalent haplotype in Senegalese living with sickle cell anemia. Senegal haplotype, BCL11A-rs4671393 variant, alpha-thalassemia (3.7kb HBA1/HBA2 deletion), NPRL3-rs11248850 variant are protective factors against albuminuria stade A2 in sickle cell anemia. Combining alpha-thalassemia (3.7kb HBA1/HBA2 deletion) and NPRL3-rs11248850 variant expose patients living with sickle cell anemia to glomerular hyperfiltration. Microglucosuria is prevalent in patients living with SCA because of pronounced hemolysis. It could be use as a relevant biomarkers of kidney dysfunction in patients living with SCA.修饰基因（Modifier genes）可对镰状细胞肾病（sickle cell nephropathy）产生影响。患者招募工作于2019年1月1日至8月31日期间开展，分别在塞内加尔达喀尔的国家输血中心（Centre National de Transfusion Sanguine, CNTS）——该国成人镰状细胞病（Sickle Cell Disease, SCD）诊疗参考中心，以及达喀尔阿尔贝·罗耶国家儿童医疗中心（Centre Hospitalier National d’Enfants Albert Royer, CHNEAR）下属的镰状细胞病儿童及青少年门诊护理单元（Unité de Soins Ambulatoires des enfants et adolescents atteints de Drépanocytose, USAD），该单元为塞内加尔儿童及青少年镰状细胞病诊疗的参考中心。数据显示：塞内加尔单倍型（Senegal haplotype）是塞内加尔镰状细胞贫血（Sickle Cell Anemia, SCA）患者中最常见的单倍型。塞内加尔单倍型、BCL11A基因rs4671393位点变异、α地中海贫血（3.7kb HBA1/HBA2缺失）以及NPRL3基因rs11248850位点变异，均为镰状细胞贫血患者A2期白蛋白尿的保护性因素。同时携带α地中海贫血（3.7kb HBA1/HBA2缺失）与NPRL3基因rs11248850位点变异的镰状细胞贫血患者，更易出现肾小球高滤过。由于存在显著溶血现象，微量葡萄糖尿（microglucosuria）在镰状细胞贫血患者中患病率较高，其可作为镰状细胞贫血患者肾功能损伤的有效生物标志物。