Bissonnette Mei Lin Z, Henriksen Kammi J, Delaney Kristie, Stankus Nicole, Chang Anthony
Departments of Pathology and.
Nephrology, University of Chicago, Chicago, Illinois.
J Am Soc Nephrol. 2016 May;27(5):1300-4. doi: 10.1681/ASN.2015040399. Epub 2015 Nov 6.
Sickle cell nephropathy is a common complication in patients with sickle cell hemoglobinopathies. In these disorders, polymerization of mutated hemoglobin S results in deformation of red blood cells, which can cause endothelial cell injury in the kidney that may lead to thrombus formation when severe or manifest by multilayering of the basement membranes (glomerular and/or peritubular capillaries) in milder forms of injury. As the injury progresses, the subsequent ischemia, tubular dysfunction, and glomerular scarring can result in CKD or ESRD. Sickle cell nephropathy can occur in patients with homozygous hemoglobin SS or heterozygous hemoglobin S (hemoglobin SC, hemoglobin S/β(0)-thalassemia, and hemoglobin S/β(+)-thalassemia). Clinical manifestations resulting from hemoglobin S polymerization are often milder in patients with heterozygous hemoglobin S. These patients may not present with clinically apparent acute sickle cell crises, but these milder forms can provide a unique view of the kidney injury in sickle cell disease. Here, we report a patient with hemoglobin SC disease who showed peritubular capillary and vasa recta thrombi and capillary basement membrane alterations primarily involving the renal medulla. This patient highlights the vascular occlusion and endothelial cell injury in the medulla that contribute to sickle cell nephropathy.
镰状细胞肾病是镰状细胞血红蛋白病患者常见的并发症。在这些疾病中,突变的血红蛋白S聚合导致红细胞变形,这可引起肾脏内皮细胞损伤,严重时可能导致血栓形成,或在较轻形式的损伤中表现为基底膜(肾小球和/或肾小管周围毛细血管)多层化。随着损伤进展,随后的缺血、肾小管功能障碍和肾小球瘢痕形成可导致慢性肾脏病或终末期肾病。镰状细胞肾病可发生于纯合血红蛋白SS患者或杂合血红蛋白S患者(血红蛋白SC、血红蛋白S/β(0) -地中海贫血和血红蛋白S/β(+) -地中海贫血)。杂合血红蛋白S患者中,由血红蛋白S聚合引起的临床表现通常较轻。这些患者可能没有明显的临床急性镰状细胞危象,但这些较轻形式可提供镰状细胞病肾脏损伤的独特视角。在此,我们报告1例血红蛋白SC病患者,其显示肾小管周围毛细血管和直小血管血栓形成以及主要累及肾髓质的毛细血管基底膜改变。该患者突出了髓质中的血管闭塞和内皮细胞损伤,这些因素促成了镰状细胞肾病。