%0 Journal Article
%@ 1471-2369
%A Jankauskienė, Augustina
%A Koczkowska, Magdalena
%A Bjerre, Anna
%A Bernaciak, Joanna
%A Schaefer, Franz
%A Lipska-Ziętkiewicz, Beata S.
%C London
%D 2016
%F heidok:20489
%I BioMed Central
%J BMC Nephrology
%N 32
%P 1-5
%T Glomerulopathy in patients with distal duplication of chromosome 6p
%U https://archiv.ub.uni-heidelberg.de/volltextserver/20489/
%V 17
%X 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.