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- Eksmyr, R, et al.
(författare)
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Low molecular weight proteinuria and slight hyperlipoproteinemia in three mentally retarded brothers.
- 1976
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Ingår i: Acta paediatrica Scandinavica. - 0001-656X. ; 65:4, s. 521-5
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Tidskriftsartikel (refereegranskat)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 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.
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