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

• Published in: Nephrology, dialysis, transplantation dialysis, transplantation, 2009-04, Vol.24 (4), p.1335-1338
• Main Authors: Proesmans, Willem, Van Dyck, Maria, Devriendt, Koenraad
• Format: Article
• Language: English
• Subjects: ACE-inhibitors; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Angiotensin II Type 1 Receptor Blockers - therapeutic use; angiotensin receptor blockers; Angiotensin-Converting Enzyme Inhibitors - therapeutic use; Biological and medical sciences; Drug Therapy, Combination; Emergency and intensive care: renal failure. Dialysis management; Enalapril - therapeutic use; Female; genetic renal disorders; Glomerulonephritis; hereditary onycho-osteodysplasia; Humans; Infant; Intensive care medicine; Losartan - therapeutic use; Medical sciences; Nail-Patella Syndrome - drug therapy; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Nephrotic Syndrome - drug therapy; Remission Induction; renoprotection
• ISSN: 0931-0509; 1460-2385
• DOI: 10.1093/ndt/gfn725

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.