Glomerulopathy in patients with distal duplication of chromosome 6p.
Ontology highlight
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.
SUBMITTER: Jankauskiene A
PROVIDER: S-EPMC4802583 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Publications
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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