eprintid: 20489
rev_number: 11
eprint_status: archive
userid: 1589
dir: disk0/00/02/04/89
datestamp: 2016-04-08 11:22:02
lastmod: 2024-03-26 10:19:36
status_changed: 2016-04-08 11:22:02
type: article
metadata_visibility: show
creators_name: Jankauskienė, Augustina
creators_name: Koczkowska, Magdalena
creators_name: Bjerre, Anna
creators_name: Bernaciak, Joanna
creators_name: Schaefer, Franz
creators_name: Lipska-Ziętkiewicz, Beata S.
title: Glomerulopathy in patients with distal duplication of chromosome 6p
subjects: ddc-610
divisions: i-910500
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.
date: 2016
publisher: BioMed Central
id_scheme: DOI
ppn_swb: 1656549123
own_urn: urn:nbn:de:bsz:16-heidok-204893
language: eng
bibsort: JANKAUSKIEGLOMERULOP2016
full_text_status: public
publication: BMC Nephrology
volume: 17
number: 32
place_of_pub: London
pagerange: 1-5
issn: 1471-2369
citation:   Jankauskienė, Augustina ; Koczkowska, Magdalena ; Bjerre, Anna ; Bernaciak, Joanna ; Schaefer, Franz ; Lipska-Ziętkiewicz, Beata S.  (2016) Glomerulopathy in patients with distal duplication of chromosome 6p.  BMC Nephrology, 17 (32).  pp. 1-5.  ISSN 1471-2369     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/20489/1/12882_2016_Article_246.pdf