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Open Access 01-12-2016 | Case report

Glomerulopathy in patients with distal duplication of chromosome 6p

Authors: Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-Ziętkiewicz

Published in: BMC Nephrology | Issue 1/2016

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.

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Title: Glomerulopathy in patients with distal duplication of chromosome 6p
Authors: Augustina Jankauskienė
Magdalena Koczkowska
Anna Bjerre
Joanna Bernaciak
Franz Schaefer
Beata S. Lipska-Ziętkiewicz
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: BMC Nephrology / Issue 1/2016
Electronic ISSN: 1471-2369
DOI: https://doi.org/10.1186/s12882-016-0246-2

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Glomerulopathy in patients with distal duplication of chromosome 6p

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Case presentation

Conclusion

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