Glomerulopathy in patients with distal duplication of chromosome 6p

BMC Nephrol. 2016 Mar 21;17:32. doi: 10.1186/s12882-016-0246-2.

Abstract

Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy.

Case presentation: Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in infancy, was later diagnosed as focal segmental glomerulosclerosis, progressed to end-stage renal disease and was successfully transplanted.

Conclusion: A systematic literature review suggests that 15-20 % of individuals with distal 6p duplication develop progressive proteinuric glomerulopathy. Monitoring of kidney function should be recommended in all cases.

Keywords: Distal chromosome 6p duplication; FOXC1; Focal segmental glomerulosclerosis; Glomerulopathy.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Agenesis of Corpus Callosum / genetics
  • Chromosomes, Human, Pair 6 / genetics
  • Craniosynostoses / genetics
  • Female
  • Glomerulosclerosis, Focal Segmental / genetics*
  • Hearing Loss, Bilateral / genetics
  • Humans
  • Hydrocephalus / genetics
  • Kidney Failure, Chronic / genetics*
  • Kidney Failure, Chronic / surgery
  • Kidney Transplantation
  • Microphthalmos / genetics
  • Microstomia / genetics
  • Muscle Hypotonia / genetics
  • Pulmonary Subvalvular Stenosis / genetics
  • Ribs
  • Synostosis / genetics
  • Trisomy / genetics*

Supplementary concepts

  • Chromosome 6, trisomy 6p