Low molecular weight proteinuria and slight hyperlipoproteinemia in three mentally retarded brothers

Acta Paediatr Scand. 1976 Jul;65(4):521-5. doi: 10.1111/j.1651-2227.1976.tb04925.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Blood Proteins / metabolism
  • Child
  • Child, Preschool
  • Humans
  • Hyperlipidemias / genetics
  • Intellectual Disability / blood
  • Intellectual Disability / genetics*
  • Intellectual Disability / urine
  • Lipids / blood
  • Male
  • Molecular Weight
  • Proteinuria / genetics*


  • Blood Proteins
  • Lipids