Successful cyclosporin A therapy for diffuse mesangial sclerosis associated with two <i>WT1</i> mutations

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  • シクロスポリンA が奏効している2 つの<i>WT1</i> 遺伝子変異を有するdiffuse mesangial sclerosis の1 例

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Wilms’ tumor suppressor gene 1 (WT1) mutations are found in Denys-Drash syndrome, Frasier syndrome, and isolated diffuse mesangial sclerosis; these mutations lead to the occurrence of diffuse mesangial sclerosis (DMS) and focal segmental glomerulosclerosis. Nephrotic syndrome (NS) caused because of DMS is unresponsive to drug therapy and is characterized by rapid progression to end-stage renal disease. Here, we report a case of a 2-year-old girl with NS caused because of DMS who responded favorably to cyclosporin A (CsA) . CsA therapy induced a dose-dependent decrease in her urinary protein/creatinine ratio and resulted in partial remission of NS and maintenance of normal renal function for over 2 years. In addition, cases with one WT1 mutation have been reported; however, cases with two WT1 mutations have not been reported thus far. CsA may be effective for DMS with WT1 mutations, if therapy is started before creatinine levels increase. In children with WT1 mutation, CsA therapy may prevent progression to end-stage renal disease, thereby facilitating systematic preemptive kidney transplantation.

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