Title: Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment
Authors: Proesmans, Willem ×
Van Dyck, Maria
Devriendt, Koenraad #
Issue Date: Apr-2009
Publisher: Springer International
Series Title: Nephrology, Dialysis, Transplantation vol:24 issue:4 pages:1335-1338
Abstract: A girl, second child of healthy parents, was referred to the Renal Unit at the age of 9 months with haematuria (230 RBC/microl) 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.
ISSN: 0931-0509
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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