Naik Rakhi P, Derebail Vimal K
a Division of Hematology, Department of Medicine , Johns Hopkins University , Baltimore , MD , USA.
b Division of Nephrology and Hypertension, Department of Medicine , University of North Carolina at Chapel Hill , Chapel Hill , NC , USA.
Expert Rev Hematol. 2017 Dec;10(12):1087-1094. doi: 10.1080/17474086.2017.1395279. Epub 2017 Oct 30.
Renal dysfunction is among the most common complication of sickle cell disease (SCD), from hyposthenuria in children to progression to overt chronic kidney disease (CKD) in young adults. Emerging evidence now suggests that sickle hemoglobin-related nephropathy extends to individuals with sickle cell trait (SCT). Areas covered: This review will highlight the pathophysiology, epidemiology, and management recommendations for sickle hemoglobin-related nephropathy in both SCD and SCT. In addition, it will focus on the major demographic and genetic modifiers of renal disease in sickling hemoglobinopathies. Expert commentary: Studies have elucidated the course of renal disease in SCD; however, the scope and age of onset of renal dysfunction in SCT has yet to be determined. In SCD, several modifiers of renal disease - such as α-thalassemia, hemoglobin F, APOL1 and HMOX1 - have been described and provide an opportunity for a precision medicine approach to risk stratify patients who may benefit from early intervention. Extrapolating from this literature may also provide insight into the modifiers of renal disease in SCT. Further studies are needed to determine the optimal treatment for sickle hemoglobin-related nephropathy.
肾功能不全是镰状细胞病(SCD)最常见的并发症之一,从儿童的低渗尿到年轻成年人发展为明显的慢性肾脏病(CKD)。新出现的证据表明,与镰状血红蛋白相关的肾病也累及具有镰状细胞性状(SCT)的个体。涵盖领域:本综述将重点介绍SCD和SCT中与镰状血红蛋白相关肾病的病理生理学、流行病学及管理建议。此外,还将关注镰状血红蛋白病中肾脏疾病的主要人口统计学和基因修饰因素。专家评论:研究已阐明SCD中肾脏疾病的病程;然而,SCT中肾功能不全的范围和发病年龄尚未确定。在SCD中,已描述了几种肾脏疾病的修饰因素,如α地中海贫血、血红蛋白F、载脂蛋白L1(APOL1)和血红素加氧酶1(HMOX1),这为采用精准医学方法对可能从早期干预中获益的患者进行风险分层提供了机会。从这些文献进行推断也可能有助于深入了解SCT中肾脏疾病的修饰因素。需要进一步研究以确定与镰状血红蛋白相关肾病的最佳治疗方法。