ESPN 51th Annual Meeting

ESPN 2018


 
TWO CASES WITH ISOLATED STEROID-RESISTANT NEPHROTIC SYNDROME THAT DETECTED THE WILM’S TUMOR SUPPRESSOR GENE-1 MUTATION
DILA TUĞÇE ŞAHIN 1 BELTINGE DEMIRCIOĞLU KILIÇ 2 MEHTAP AKBALIK KARA 3 MITHAT BÜYÜKÇELIK 2

1- GAZIANTEP UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRICS, GAZIANTEP, TURKEY
2- GAZIANTEP UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRIC NEPHROLOGY, GAZIANTEP, TURKEY
3- DIYARBAKIR CHILDREN’S HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY, DIYARBAKIR, TURKEY
 
Introduction:

 Introduction: Wilms tumor suppressor gene-1(WT1) encodes WT1 with transcription factor. This factor plays a role in the embryonic development of the kidney and genital organs. WT1 was first described as a gene causing Wilms tumor, Denys-Drash and Fraiser syndrome. Two patients with isolated steroid resistant nephrotic syndrome (SRNS), who have WT1 gene mutation is presented here.

Material and methods:

 Case 1: 3-year-old girl phenotype patient was followed in the department of immunology because of hypogammaglobulinemia, and than proteinuria was detected and she was started to be followed in the nephrology department. The kidney biopsy was performed because of SRNS and Focal segmental glomerulosclerosis (FSGS) was detected. NPHS1 and NPHS2 genetic mutations were negative but IVS9+5G>A heterozygous mutation in WT1 gene was detected. Chromosome analysis was determined as 46XY. The patient had not genital/ extrarenal abnormalities. The patient is currently being followed by supportive treatment.

 

Results:

 Case 2: 5-year-old girl phenotype patient was accepted from the other center. In her story; At the age of 4 years, she was diagnosed with SRNS and FSGS was detected in her biopsy and she received cyclophosphamide treatment except from steroid. We investigated genetic mutation. We started cyclosporine treatment for patient. NPHS1 and NPHS2 gene mutations were negative but IVS9+5G>A heterozygous mutation in WT1 gene was detected. Chromosome analysis was 46XY and the patient had no genital/extrarenal abnormalities. The patient was taken to the hemodialysis program two years later and renal transplantation was performed at the age of 8 years.

Conclusions:

 Conclusion: The patients with WT1 mutations may develop isolated SRNS without genital or extrarenal abnormalities. Early genetic diagnosis will prevent unnecessary multiple immunosuppressive treatment of this disease and patients will be more closely monitored for extrarenal abnormalities such as Wilm’s tumor and gonodoblastoma. Therefore, the rare WT1 gene mutation should be investigated in patients with SRNS diagnosis.