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01.12.2016 | Case report | Ausgabe 1/2016 Open Access

BMC Nephrology 1/2016

Glomerulopathy in patients with distal duplication of chromosome 6p

Zeitschrift:
BMC Nephrology > Ausgabe 1/2016
Autoren:
Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-Ziętkiewicz
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s12882-016-0246-2) contains supplementary material, which is available to authorized users.
An erratum to this article can be found at http://​dx.​doi.​org/​10.​1186/​s12882-016-0255-1.

Competing interests

None. The results presented in this paper have not been published previously in whole or part.

Authors’ contribution

AJ conceived the study, contributed to acquisition of data as initial primary nephrologist of the patient, coordinated the study and helped to draft the manuscript, MK: performed molecular and cytogenetic studies (aCGH, qPCR, NGS); AB: contributed to acquisition of the data as the current primary nephrologist of the patient; JB performed FISH studies; FS contributed to the conception, design of the study and helped to draft the manuscript; BSL-Z contributed to the conception, design of the study, performed Sanger sequencing of /NPHS2, WT1/ genes, designed the experiments, performed interpretation of data, and drafted the manuscript. All authors read and approved the final manuscript.

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.
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