Glomerulopathy in patients with distal duplication of chromosome 6p

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:...

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Autores principales: Jankauskienė, Augustina, Koczkowska, Magdalena, Bjerre, Anna, Bernaciak, Joanna, Schaefer, Franz, Lipska-Ziętkiewicz, Beata S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802583/
https://www.ncbi.nlm.nih.gov/pubmed/27000031
http://dx.doi.org/10.1186/s12882-016-0246-2
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author Jankauskienė, Augustina
Koczkowska, Magdalena
Bjerre, Anna
Bernaciak, Joanna
Schaefer, Franz
Lipska-Ziętkiewicz, Beata S.
author_facet Jankauskienė, Augustina
Koczkowska, Magdalena
Bjerre, Anna
Bernaciak, Joanna
Schaefer, Franz
Lipska-Ziętkiewicz, Beata S.
author_sort Jankauskienė, Augustina
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12882-016-0246-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-48025832016-03-22 Glomerulopathy in patients with distal duplication of chromosome 6p Jankauskienė, Augustina Koczkowska, Magdalena Bjerre, Anna Bernaciak, Joanna Schaefer, Franz Lipska-Ziętkiewicz, Beata S. BMC Nephrol Case Report 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12882-016-0246-2) contains supplementary material, which is available to authorized users. BioMed Central 2016-03-21 /pmc/articles/PMC4802583/ /pubmed/27000031 http://dx.doi.org/10.1186/s12882-016-0246-2 Text en © Jankauskienė et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Jankauskienė, Augustina
Koczkowska, Magdalena
Bjerre, Anna
Bernaciak, Joanna
Schaefer, Franz
Lipska-Ziętkiewicz, Beata S.
Glomerulopathy in patients with distal duplication of chromosome 6p
title Glomerulopathy in patients with distal duplication of chromosome 6p
title_full Glomerulopathy in patients with distal duplication of chromosome 6p
title_fullStr Glomerulopathy in patients with distal duplication of chromosome 6p
title_full_unstemmed Glomerulopathy in patients with distal duplication of chromosome 6p
title_short Glomerulopathy in patients with distal duplication of chromosome 6p
title_sort glomerulopathy in patients with distal duplication of chromosome 6p
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802583/
https://www.ncbi.nlm.nih.gov/pubmed/27000031
http://dx.doi.org/10.1186/s12882-016-0246-2
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