Glomerulopathy in patients with distal duplication of chromosome 6p View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12

AUTHORS

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

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. More... »

PAGES

32

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12882-016-0246-2

DOI

http://dx.doi.org/10.1186/s12882-016-0246-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016123530

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27000031


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