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Glomerulopathy in patients with distal duplication of chromosome 6p.


ABSTRACT: 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.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.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.

SUBMITTER: Jankauskiene A 

PROVIDER: S-EPMC4802583 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Glomerulopathy in patients with distal duplication of chromosome 6p.

Jankauskienė Augustina A   Koczkowska Magdalena M   Bjerre Anna A   Bernaciak Joanna J   Schaefer Franz F   Lipska-Ziętkiewicz Beata S BS  

BMC nephrology 20160321


<h4>Background</h4>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.<h4>Case presentation</h4>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-sta  ...[more]

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