In: BMC Nephrology, 17 (2016), Nr. 32. pp. 1-5. ISSN 1471-2369

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PDF, English Download (815kB) | Lizenz: Glomerulopathy in patients with distal duplication of chromosome 6p by Jankauskienė, Augustina ; Koczkowska, Magdalena ; Bjerre, Anna ; Bernaciak, Joanna ; Schaefer, Franz ; Lipska-Ziętkiewicz, Beata S. underlies the terms of Creative Commons Attribution 3.0 Germany

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.