{"title":"肾脏疾病合并镰状细胞病的治疗。","authors":"Momen Abbasi, Anand Srivastava, Santosh L Saraf","doi":"10.1681/ASN.0000000804","DOIUrl":null,"url":null,"abstract":"<p><p>Sickle cell disease is the most common inherited blood cell disorder in the United States. Vaso-occlusion and hemolysis are hallmark features of sickle cell disease that may lead to kidney damage through endothelial dysfunction and oxidative and inflammatory stress. Manifestations of sickle cell disease-related kidney disease include hyperfiltration that occurs early in the disease course followed by albuminuria and a progressive decline in eGFR. Patients with sickle cell disease have a faster rate of eGFR decline and the development of CKD is associated with higher morbidity and early mortality. The assessment of kidney function is challenged by the transition from the hyperfiltration phase to reduced eGFR and by tubular creatinine secretion, which may lead to overestimation of the true GFR. Cystatin C-based and race-free estimating GFR equations reduce the overestimation but require further validation. Complications of kidney dysfunction include hyperkalemia and metabolic acidosis that occur at higher eGFR thresholds compared with the general population. Coinheritance of genetic variants, such as APOL1 G1 and G2 kidney risk variants, may help identify patients with sickle cell disease at higher risk for CKD and guide treatment and screening strategies. Therapeutic approaches targeting the sickle cell disease pathophysiology, such as hydroxyurea, chronic red blood cell transfusions, and hematopoietic stem cell transplantation, have demonstrated some kidney protective effects, but larger studies with longer follow-up are needed. Novel agents, including endothelin receptor antagonists, pyruvate kinase activators, and APOL1 inhibitors, are currently under investigation. Kidney-protective therapies such as renin-angiotensin-aldosterone system inhibitors and sodium-glucose cotransporter 2 inhibitors offer promise but require prospective validation in sickle cell disease cohorts. Kidney transplantation is associated with better survival and should not be withheld based solely on sickle cell disease diagnosis. Early identification, individualized management, and ongoing research are essential to improve kidney outcomes and reduce mortality in this high-risk population.</p>","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":"2041-2054"},"PeriodicalIF":9.4000,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12499626/pdf/","citationCount":"0","resultStr":"{\"title\":\"Management of Kidney Disease with Sickle Cell Disease.\",\"authors\":\"Momen Abbasi, Anand Srivastava, Santosh L Saraf\",\"doi\":\"10.1681/ASN.0000000804\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Sickle cell disease is the most common inherited blood cell disorder in the United States. Vaso-occlusion and hemolysis are hallmark features of sickle cell disease that may lead to kidney damage through endothelial dysfunction and oxidative and inflammatory stress. Manifestations of sickle cell disease-related kidney disease include hyperfiltration that occurs early in the disease course followed by albuminuria and a progressive decline in eGFR. Patients with sickle cell disease have a faster rate of eGFR decline and the development of CKD is associated with higher morbidity and early mortality. The assessment of kidney function is challenged by the transition from the hyperfiltration phase to reduced eGFR and by tubular creatinine secretion, which may lead to overestimation of the true GFR. Cystatin C-based and race-free estimating GFR equations reduce the overestimation but require further validation. Complications of kidney dysfunction include hyperkalemia and metabolic acidosis that occur at higher eGFR thresholds compared with the general population. Coinheritance of genetic variants, such as APOL1 G1 and G2 kidney risk variants, may help identify patients with sickle cell disease at higher risk for CKD and guide treatment and screening strategies. Therapeutic approaches targeting the sickle cell disease pathophysiology, such as hydroxyurea, chronic red blood cell transfusions, and hematopoietic stem cell transplantation, have demonstrated some kidney protective effects, but larger studies with longer follow-up are needed. Novel agents, including endothelin receptor antagonists, pyruvate kinase activators, and APOL1 inhibitors, are currently under investigation. Kidney-protective therapies such as renin-angiotensin-aldosterone system inhibitors and sodium-glucose cotransporter 2 inhibitors offer promise but require prospective validation in sickle cell disease cohorts. Kidney transplantation is associated with better survival and should not be withheld based solely on sickle cell disease diagnosis. Early identification, individualized management, and ongoing research are essential to improve kidney outcomes and reduce mortality in this high-risk population.</p>\",\"PeriodicalId\":17217,\"journal\":{\"name\":\"Journal of The American Society of Nephrology\",\"volume\":\" \",\"pages\":\"2041-2054\"},\"PeriodicalIF\":9.4000,\"publicationDate\":\"2025-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12499626/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of The American Society of Nephrology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1681/ASN.0000000804\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of The American Society of Nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1681/ASN.0000000804","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/26 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
Management of Kidney Disease with Sickle Cell Disease.
Sickle cell disease is the most common inherited blood cell disorder in the United States. Vaso-occlusion and hemolysis are hallmark features of sickle cell disease that may lead to kidney damage through endothelial dysfunction and oxidative and inflammatory stress. Manifestations of sickle cell disease-related kidney disease include hyperfiltration that occurs early in the disease course followed by albuminuria and a progressive decline in eGFR. Patients with sickle cell disease have a faster rate of eGFR decline and the development of CKD is associated with higher morbidity and early mortality. The assessment of kidney function is challenged by the transition from the hyperfiltration phase to reduced eGFR and by tubular creatinine secretion, which may lead to overestimation of the true GFR. Cystatin C-based and race-free estimating GFR equations reduce the overestimation but require further validation. Complications of kidney dysfunction include hyperkalemia and metabolic acidosis that occur at higher eGFR thresholds compared with the general population. Coinheritance of genetic variants, such as APOL1 G1 and G2 kidney risk variants, may help identify patients with sickle cell disease at higher risk for CKD and guide treatment and screening strategies. Therapeutic approaches targeting the sickle cell disease pathophysiology, such as hydroxyurea, chronic red blood cell transfusions, and hematopoietic stem cell transplantation, have demonstrated some kidney protective effects, but larger studies with longer follow-up are needed. Novel agents, including endothelin receptor antagonists, pyruvate kinase activators, and APOL1 inhibitors, are currently under investigation. Kidney-protective therapies such as renin-angiotensin-aldosterone system inhibitors and sodium-glucose cotransporter 2 inhibitors offer promise but require prospective validation in sickle cell disease cohorts. Kidney transplantation is associated with better survival and should not be withheld based solely on sickle cell disease diagnosis. Early identification, individualized management, and ongoing research are essential to improve kidney outcomes and reduce mortality in this high-risk population.
期刊介绍:
The Journal of the American Society of Nephrology (JASN) stands as the preeminent kidney journal globally, offering an exceptional synthesis of cutting-edge basic research, clinical epidemiology, meta-analysis, and relevant editorial content. Representing a comprehensive resource, JASN encompasses clinical research, editorials distilling key findings, perspectives, and timely reviews.
Editorials are skillfully crafted to elucidate the essential insights of the parent article, while JASN actively encourages the submission of Letters to the Editor discussing recently published articles. The reviews featured in JASN are consistently erudite and comprehensive, providing thorough coverage of respective fields. Since its inception in July 1990, JASN has been a monthly publication.
JASN publishes original research reports and editorial content across a spectrum of basic and clinical science relevant to the broad discipline of nephrology. Topics covered include renal cell biology, developmental biology of the kidney, genetics of kidney disease, cell and transport physiology, hemodynamics and vascular regulation, mechanisms of blood pressure regulation, renal immunology, kidney pathology, pathophysiology of kidney diseases, nephrolithiasis, clinical nephrology (including dialysis and transplantation), and hypertension. Furthermore, articles addressing healthcare policy and care delivery issues relevant to nephrology are warmly welcomed.