Landing B H, Gonick H C, Nadorra R L, Hyman C B, Wells T R, Villarreal-Engelhardt G, Mersch J, Agness C L
Department of Pathology, Childrens Hospital of Los Angeles, California 90027.
Pediatr Pathol. 1989;9(5):479-500. doi: 10.3109/15513818909026908.
Renal lesions found in 21 autopsied patients with hemosiderosis, 18 with beta-thalassemia, two with Blackfan-Diamond anemia, and one with aplastic anemia included: cellular glomeruli with increased mesangial matrix; hemosiderin deposit in visceral and parietal glomerular epithelial cells; greater hemosiderin deposit in terminal straight portions of proximal convoluted tubules and distal convoluted tubules than in connecting segments, or collecting tubules, connective tissue ferrugination; lipofuscin in tubular epithelium and vascular smooth muscle; infrequently, intimal or medial arterial thickening, and, in one patient with thalassemia, an infarct resulting from arterial thrombus. The progression of these lesions over the course of disease, and possible effects on the various lesions of high transfusion regimen, oral pancreatin, vitamin E supplementation, or treatment with intramuscular, subcutaneous, or intravenous desferrioxamine were evaluated. The results of urine and renal function studies of 4 of the autopsied patients (3 thalassemia, 1 Blackfan-Diamond anemia), and 14 patients with thalassemia and 4 with Blackfan-Diamond anemia who were not autopsied, are presented. Rarely significant until preterminal stages, the renal functional changes reflect distal more than proximal tubule dysfunction.
在21例尸检的含铁血黄素沉着症患者、18例β地中海贫血患者、2例先天性纯红细胞再生障碍性贫血患者和1例再生障碍性贫血患者中发现的肾脏病变包括：系膜基质增加的细胞性肾小球；肾小球脏层和壁层上皮细胞中的含铁血黄素沉积；近端曲管和远端曲管终末直部的含铁血黄素沉积比连接段或集合管更多，结缔组织铁锈化；肾小管上皮和血管平滑肌中的脂褐素；内膜或中膜动脉增厚较少见，在1例地中海贫血患者中，动脉血栓导致梗死。评估了这些病变在疾病过程中的进展，以及高输血方案、口服胰酶、补充维生素E或肌肉注射、皮下注射或静脉注射去铁胺对各种病变可能产生的影响。呈现了4例尸检患者（3例地中海贫血，1例先天性纯红细胞再生障碍性贫血）以及14例未进行尸检的地中海贫血患者和4例先天性纯红细胞再生障碍性贫血患者的尿液和肾功能研究结果。直到终末期之前很少有显著变化，肾功能改变反映远端肾小管功能障碍比近端更明显。
