Renal lesions and clinical findings in thalassemia major and other chronic anemias with hemosiderosis.
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.
Landing
B H
BH
Department of Pathology, Childrens Hospital of Los Angeles, California 90027.
Gonick
H C
HC
Nadorra
R L
RL
Hyman
C B
CB
Wells
T R
TR
Villarreal-Engelhardt
G
G
Mersch
J
J
Agness
C L
CL
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003238:Connective Tissue / Q000473:pathology; D005260:Female; D006486:Hemosiderosis / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007668:Kidney / Q000473:pathology* / Q000503:physiopathology; D007678:Kidney Glomerulus / Q000473:pathology; D007684:Kidney Tubules / Q000473:pathology; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D013789:Thalassemia / Q000150:complications / Q000473:pathology* / Q000503:physiopathology
D008062:Lipofuscin