Clinical Evaluation of Nephrotic Syndrome Manifesting in the First Year of Life

PURPOSE: This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. METHODS: We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. RESULTS: Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. CONCLUSION: Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.

A Case of Congenital Nephrotic Syndrome due to Diffuse Mesangial Sclerosis

Diffuse mesangial sclerosis (DMS) is one of the underlying pathology of congenital and infantile nephrotic syndrome. Infants with DMS develop nephrotic syndrome before 2 years of age and progress to end stage renal disease within 3 years of age. The authors experienced a case of isolated DMS in a 4-month-old male infant who had nephrotic syndrome for 1 month. The diagnosis was confirmed on the basis of clinical, laboratory, pathological and molecular genetic findings. This is the 3rd case report of DMS in our country and the 1st case report of isolated DMS confirmed by molecular genetic study.