TY  - JOUR
VL  - 17
JF  - BMC Nephrology
Y1  - 2016///
TI  - Glomerulopathy in patients with distal duplication of chromosome 6p
PB  - BioMed Central
CY  - London
ID  - heidok20489
IS  - 32
N2  - 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.
UR  - https://archiv.ub.uni-heidelberg.de/volltextserver/20489/
SP  - 1
A1  - Jankauskien?, Augustina
A1  - Koczkowska, Magdalena
A1  - Bjerre, Anna
A1  - Bernaciak, Joanna
A1  - Schaefer, Franz
A1  - Lipska-Zi?tkiewicz, Beata S.
AV  - public
EP  - 5
SN  - 1471-2369
ER  -