Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report

Clin Nephrol. 2011 Jul;76(1):64-7. doi: 10.5414/cn106587.

Abstract

We treated a patient with 6p partial deletion syndrome diagnosed after proteinuria was detected during developmental examination 3 years after birth. External anomalies included ocular hypertelorism, saddle nose, elongated philtrum, tent-like lips, and low-set auricles. Mental retardation was evident. The karyotype was 46,XX,del(6) (p.22.1-p22.3) with an interstitial deletion. The kidneys showed no abnormality on imaging such as hydronephrosis, atrophy, or malformation. Examination of a renal biopsy specimen disclosed focal segmental glomerulosclerosis. No cardiac anomaly or Rieger anomaly, which often are present in this syndrome, were noted.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Biopsy
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Glomerulosclerosis, Focal Segmental / diagnosis
  • Glomerulosclerosis, Focal Segmental / genetics*
  • Humans
  • Kidney / diagnostic imaging
  • Kidney / pathology
  • Radiography