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NDT Advance Access originally published online on January 15, 2009
Nephrology Dialysis Transplantation 2009 24(4):1335-1338; doi:10.1093/ndt/gfn725
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© 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


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