Skip Navigation



NDT Advance Access published online on January 15, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfn725
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
24/4/1335    most recent
gfn725v1
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 Proesmans, W.
Right arrow Articles by Devriendt, K.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Proesmans, W.
Right arrow Articles by Devriendt, K.
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


Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment

Willem Proesmans1, Maria Van Dyck1 and Koenraad Devriendt2

1 Renal Unit, Department of Pediatrics, University Hosptial Gasthuisberg 2 Center for Human Genetics, KULeuven, Belgium

Correspondence and offprint requests to: Willem Proesmans, University Hospital Gasthuisberg, 3000 Leuven, Belgium. Tel: +32-16-34-21-51; Fax: +32-16-34-21-52; E-mail: willem.proesmans{at}med.kuleuven.be



  Abstract

A girl, second child of healthy parents, was referred to the Renal Unit at the age of 9 months with haematuria (230 RBC/µl) and proteinuria (2.4 g/l). Serum creatinine was normal (0.25 mg/dl), albumin low (34 g/l) and cholesterol elevated (223 mg/dl). Physical examination showed bilateral webbing of the elbows, equinovarus of both feet and absent patellae. The clinical diagnosis of nail-patella syndrome was confirmed by demonstrating a splice mutation in the intron 5 (750 + 1 G>A) of the LMX1B gene. Treatment with enalapril for 2 years (0.1–1 mg/kg per day) did not bring about any change in urinary protein excretion. However, enalapril (1 mg/kg per day) associated with losartan (1 mg/kg per day) resulted in complete remission (proteinuria 140 mg/24 h) at the age of 7 years.

Keywords: ACE-inhibitors; angiotensin receptor blockers; genetic renal disorders; hereditary onycho-osteodysplasia; renoprotection

Received for publication: 2. 7.08
Accepted in revised form: 4.12.08


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


This article has been cited by other articles:


Home page
 Nephrol Dial TransplantHome page
N. Soliman
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment
Nephrol. Dial. Transplant., September 1, 2009; 24(9): 2951 - 2951.
[Full Text] [PDF]

Home page
 Nephrol Dial TransplantHome page
W. Proesmans, on behalf of his coauthors, M. Van Dyck, and K. Devriendt
Reply
Nephrol. Dial. Transplant., September 1, 2009; 24(9): 2951 - 2952.
[Full Text] [PDF]


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.