Abstract
We herein describe a 6-year old girl with focal segmental glomerulosclerosis (FSGS) who was complicated with familial Denys-Drash syndrome and successfully responded to treatment with Angiotensin II receptor blocker (ARB). She was diagnosed to have Denys-Drash syndrome and a Wilms tumor in the bilateral kidney at 8 months of age and thereafter underwent a tumor extirpation. Later, proteinuria appeared at 1 year and 8 months of age and the patient's urinary protein excretion thereafter gradually showed a marked increase. A renal biopsy was performed at 6 years of age, and FSGS was thus diagnosed based on a renal histopathological study. As a result, ARB was administered and she rapidly showed a good response and thereafter a marked decrease in urinary protein excretion. One and a half years later, the patient's proteinuria disappeared. This case demonstrates the efficacy of ARB in a patient with FSGS who is complicated with Denys-Drash syndrome.
Her father was also diagnosed to have Denys-Drash syndrome and a Wilms tumor in his left kidney at 1 year of age and a left nephrectomy and tumor expiration were thus performed. In the father, intermittent proteinuria and hematuria appeared at 6 years of age and his renal function also gradually deteriorated since 26 years of age. He therefore began to undergo hemodialysis at 31 years of age.
The WT1 gene in both the girl and her father showed the same nonsense mutation R390X in exon 9. However, their clinical courses differed somewhat from each other, even though they demonstrated the same nonsense mutation, thus indicating a diversity in the phenotype of WT1gene mutations.
