Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment.
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.
Proesmans
Willem
W
Renal Unit, Department of Pediatrics, University Hospital Gasthuisberg, 3000 Leuven, Belgium. willem.proesmans@med.kuleuven.be
Van Dyck
Maria
M
Devriendt
Koenraad
K
D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use*; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D004656:Enalapril / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D019808:Losartan / Q000627:therapeutic use*; D009261:Nail-Patella Syndrome / Q000188:drug therapy*; D009404:Nephrotic Syndrome / Q000188:drug therapy*; D012074:Remission Induction
D047228:Angiotensin II Type 1 Receptor Blockers; D000806:Angiotensin-Converting Enzyme Inhibitors; D004656:Enalapril; D019808:Losartan