Sickle cell nephropathy; exploring epidemiology, diagnostic challenges, and precision medicine advances

Abstract

Sickle cell nephropathy (SCN) poses an important challenge in the realm of sickle cell disease (SCD) and sickle cell trait (SCT), especially impacting the pediatric population and progressing to chronic kidney disease (CKD) in adulthood. This review navigates through the epidemiology of SCN, emphasizing its variable clinical course and the age-related dynamics of onset. The intricate challenges in diagnosis are explored, highlighting the evolving landscape of early detection and treatment strategies. The prevalence of SCN is intricately linked to the global distribution of SCD and SCT, with higher incidences in regions where these conditions prevail. Diagnosing SCN presents significant challenges due to its variable clinical course, necessitating advanced imaging techniques and novel biomarkers. Promising biomarkers such as KIM-1 and MCP-1 show potential for early detection and intervention, addressing the limitations of conventional diagnostic methods. Precision medicine, focusing on genetic profiling, emerges as a crucial approach for risk stratification and personalized treatment plans. The multifaceted clinical manifestations of SCN, including hematuria, proteinuria, and hypertension, underscore the importance of timely intervention. Treatment strategies involve the administration of angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, hydroxyurea for preventing chronic organ damage, and kidney transplantation for end-stage renal disease. Early diagnosis and intervention are critical to mitigate the progression of SCN and its associated complications, emphasizing the need for collaborative efforts in research and precision medicine to improve outcomes for individuals with SCN.