J Korean Soc Pediatr Nephrol.  2009 Oct;13(2):161-169.

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

• Cho SH
• Lee JH
• Cho YM
• Park YS
• Cheong HI

Abstract

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.

Keyword

Congenital nephrotic syndrome; Infantile nephrotic syndrome

MeSH Terms

Biopsy
Denys-Drash Syndrome
Dialysis
Female
Genetic Association Studies
Glomerulosclerosis, Focal Segmental
Humans
Kidney Failure, Chronic
Kidney Transplantation
Male
Nephrosis, Lipoid
Nephrotic Syndrome
Parturition
Prognosis
Retrospective Studies
Sclerosis
Sepsis
Glomerulosclerosis, Focal Segmental
Nephrotic Syndrome
Sclerosis