Low molecular weight proteinuria and slight hyperlipoproteinemia in three mentally retarded brothers.
Mental retardation in combination with proteinuria and a slight hyperlipoproteinemia was found in three brothers. The increased urinary protein excretion was dominated by albumin and the low molecular weight proteins retinol-binding protein (RBP) and beta2-microglobulin, indicating the presence of proximal tubular dysfunction. However, there was no glucosuria, phosphaturia or amino aciduria and the renal concentrating and acidification capacities were normal. A kidney biopsy in one of the patients revealed morphologic evidence of glomerular damage but a normal tubular structure. A mild hyper-beta-lipoproteinemia was found in the patients but not in their healthy siblings. The cause of this syndrome, hitherto not described, is unknown.
D000293:Adolescent; D001798:Blood Proteins / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics* / Q000652:urine; D008055:Lipids / Q000097:blood; D008297:Male; D008970:Molecular Weight; D011507:Proteinuria / Q000235:genetics*
D001798:Blood Proteins; D008055:Lipids