Nature of renal involvement in the acro-renal-ocular syndrome

Nephron. 1989;51(1):115-8. doi: 10.1159/000185264.


A 16-year-old female with acro-renal-ocular syndrome complicated by ventricular septal defect is described. Renal biopsy was performed for the first time in this syndrome, and the results suggested that proteinuria and renal dysfunction were caused by chronic pyelonephritis secondary to malrotation of the kidney and anomalous pelves. Chronic renal failure and hypoplasia of the optic papillae were also observed in the patient's mother, suggesting a participation of heredity in the pathogenesis of the syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Biopsy
  • Extremities / diagnostic imaging
  • Eye Diseases / complications*
  • Female
  • Heart Septal Defects, Ventricular / complications*
  • Humans
  • Kidney Diseases / complications*
  • Kidney Failure, Chronic / complications
  • Kidney Failure, Chronic / diagnostic imaging
  • Kidney Failure, Chronic / pathology
  • Limb Deformities, Congenital*
  • Microscopy, Electron
  • Syndrome
  • Tomography, X-Ray Computed