LOW MOLECULAR WEIGHT PROTEINURIA AND SLIGHT HYPERLIPOPROTEINEMIA IN THREE MENTALLY RETARDED BROTHERS

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Abstract
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 β2‐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‐β‐lipoproteinemia was found in the patients but not in their healthy siblings. The cause of this syndrome, hitherto not described, is unknown.

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