Glomerulopathy in patients with distal duplication of chromosome 6p. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Jankauskienė, Augustina; Koczkowska, Magdalena; Bjerre, Anna; Bernaciak, Joanna; Schaefer, Franz; Lipska-Ziętkiewicz, Beata
• Is Part Of: BMC nephrology. Volume 17:Issue 1(2016)
• Page Start: 1
• Page End: 5
• Publication Date: 2016-12
• Subjects: Distal chromosome 6p duplication -- Focal segmental glomerulosclerosis -- Glomerulopathy -- FOXC1; Kidneys -- Diseases -- Periodicals; 616.61005
• DOI: 10.1186/s12882-016-0246-2
• Languages: English
• ISSNs: 1471-2369

Abstract

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.