title: Glomerulopathy in patients with distal duplication of chromosome 6p.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Vilnius University, Children hospital affiliate of Vilnius university hospital "Santariskiu klinikos", Santariskiu 4, LT-08406, Vilnius, Lithuania. augustinajankauskiene@yahoo.com.
authors.forename: Augustina
authors.initials: A
authors.lastname: Jankauskienė
authors.affiliation: Department of Biology and Genetics, Medical University of Gdańsk, Dębinki 1, 80211, Gdańsk, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Koczkowska
authors.affiliation: Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
authors.forename: Anna
authors.initials: A
authors.lastname: Bjerre
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Bernaciak
authors.affiliation: Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
authors.forename: Franz
authors.initials: F
authors.lastname: Schaefer
authors.affiliation: Department of Biology and Genetics, Medical University of Gdańsk, Dębinki 1, 80211, Gdańsk, Poland.
authors.forename: Beata S
authors.initials: BS
authors.lastname: Lipska-Ziętkiewicz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000601:surgery; D016030:Kidney Transplantation; D008850:Microphthalmos / Q000235:genetics; D008865:Microstomia / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D011662:Pulmonary Subvalvular Stenosis / Q000235:genetics; D012272:Ribs; D013580:Synostosis / Q000235:genetics; D014314:Trisomy / Q000235:genetics*
keywords: Distal chromosome 6p duplication; FOXC1; Focal segmental glomerulosclerosis; Glomerulopathy