Acute renal injury in a patient with concomitant paroxysmal nocturnal hemoglobinuria, glucose-6-phosphate dehydrogenase deficiency and renal cell carcinoma

Abstract

The authors report a case of concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency, paroxysmal nocturnal hemoglobinuria (PNH) and renal cell carcinoma (RCC). The 53 year-old male had G6PD deficiency and accepted repeated blood transfusions due to episodes of hemolytic anemia. Unilateral nephrectomy was performed due to RCC. PNH diagnosed by flow cytometry showing CD24-deficient granulocytes with clonality of 99%, CD14-deficient monocytes with clonality of 94% and CD59-deficient red blood cells with clonality of 17%. Histopathology showed a clear cell RCC, acute tubular injury, and renal artery thrombosis. Hemosiderin deposition was prominent in damaged renal tubular cells. CD163 protein is a hemoglobin scavenger receptor. Mononuclear infiltrates, including CD163-expressing macrophages, appeared in the renal interstitium. CD133 is a marker for renal progenitor cells. Apical CD133 expression focally increased in cells of tubular regeneration and RCC. These imply hemoglobin toxicity linked with tubulointerstitial renal injury.