Glomerulopathy in patients with distal duplication of chromosome 6p.

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