Skip Navigation



NDT Advance Access published online on May 27, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfp226
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
24/8/2591    most recent
gfp226v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Sinha, M. D.
Right arrow Articles by Champion, M. P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Sinha, M. D.
Right arrow Articles by Champion, M. P.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


Congenital disorders of glycosylation: a rare cause of nephrotic syndrome

Manish D. Sinha1, Catherine Horsfield2, Debbie Komaromy3, Caroline J. Booth1 and Michael P. Champion3

1 Department of Paediatric Nephrology 2 Department of Histopathology 3 Department of Paediatric Metabolic Medicine, Evelina Children's Hospital, Guys & St Thomas NHS Foundation Trust, Westminster Bridge Road, London SE1 7EH, UK

Correspondence and offprint requests to: Manish D. Sinha; E-mail: manish.sinha{at}gstt.nhs.uk



  Abstract

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following investigation, the specific defect in glycosylation remains to be identified; hence, a diagnosis of CDG Ix (type unknown) was made. At the age of 15-months the patient developed nephrotic syndrome and renal biopsy indicated a histopathological diagnosis of diffuse mesangial sclerosis on histopathology. Since cases of CDG Ix may often develop hypoalbuminaemia secondary to malabsorption or liver disease, this case highlights the need for additional regular monitoring for glomerular proteinuria, and indicates that a diagnosis of nephrotic syndrome should be considered in all types of CDG. Furthermore, we propose that early treatment with anti-proteinuric agents may be necessary to limit proteinuria and slow disease progression.

Keywords: congenital nephrotic syndrome; CDG; nephrotic syndrome; proteinuria

Received for publication: 7. 4.08
Accepted in revised form: 24. 4.09


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.