| Title |
Glomerulopathy in patients with distal duplication of chromosome 6p / |
| Authors |
Jankauskienė, Augustina ; Koczkowska, Magdalena ; Bjerre, Anna ; Bernaciak, Joanna ; Schaefer, Franz ; Lipska-Ziętkiewicz, Beata S |
| DOI |
10.1186/s12882-016-0246-2 |
| Full Text |
|
| Is Part of |
BMC Nefrology.. London : Country. 2016, Vol. 17, 43, p. art. no 43 [1-5].. ISSN 1471-2369 |
| Keywords [eng] |
Distal chromosome 6p duplication ; Focal segmental glomerulosclerosis ; Glomerulopathy ; FOXC1 |
| Abstract [eng] |
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. |
| Published |
London : Country |
| Type |
Journal article |
| Language |
English |
| Publication date |
2016 |
