Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding.
We describe a case of lipoprotein glomerulopathy, the second ever reported from the United States, in a Mexican man with a hitherto undescribed mutation in the apolipoprotein E gene (substitution of proline for arginine at position 147 [Arg147Pro]). In this patient, glomerular basement membranes showed double contours and circumferential mesangial extensions, suggesting that deposition of lipids could be injurious to endothelial cells. Immunofluorescence staining of thrombi was positive for apolipoprotein E and B. To study the reason for lipid deposition in glomeruli, we incubated normal human kidney sections with serum from the patient and a healthy control. Apolipoprotein E from the patient's serum showed binding to the glomerular capillary wall, but the control did not, suggesting enhanced binding of the mutated apolipoprotein E to glomerular capillaries. Apolipoprotein E genotyping by means of restriction endonuclease digestion of polymerase chain reaction-amplified genomic DNA showed it to be of the wild-type E3/E3.
Sam
Ramin
R
Division of Nephrology, Stroger Hospital of Cook County, Chicago, IL 60612, USA. rsam29@aol.com
Wu
Henry
H
Yue
Lily
L
Mazzone
Ted
T
Schwartz
Melvin M
MM
Arruda
Jose A L
JA
Dunea
George
G
Singh
Ashok K
AK
D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D002196:Capillaries; D006801:Humans; D007678:Kidney Glomerulus / Q000098:blood supply* / Q000378:metabolism; D008074:Lipoproteins; D008297:Male; D009154:Mutation; D010375:Pedigree; D013927:Thrombosis / Q000235:genetics*
D001057:Apolipoproteins E; D008074:Lipoproteins