GENOTYPE-PHENOTYPE ASSOCIATIONS IN WT1 GLOMERULOPATHY

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GENOTYPE-PHENOTYPE ASSOCIATIONS IN WT1 GLOMERULOPATHY

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Co-author 1

Bassam Saeed bmsaeed2000@yahoo.com Farah association for Child With Kidney Disease Pediatric Nephrology Damascus Syrian Arab Republic *

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Introduction

WT1 mutations may cause a wide spectrum of renal and extrarenal manifestations.

Methods

We evaluated disease prevalence, phenotype spectrum and genotype-phenotype correlations of 61 patients with WT1-related steroid resistant nephrotic syndrome (SRNS) relative to 700 WT1-negative SRNS patients.

Results

WT1 patients more frequently presented with CKD and hypertension at diagnosis and exhibited more rapid disease progression (median age at ESRD 13.5 v. 22.7y). Whereas focal segmental glomerulosclerosis (FSGS) was equally prevalent in both cohorts, diffuse mesangial sclerosis (DMS) was largely specific for WT1 disease and present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%) and gonadoblastoma (5%) were almost exclusive to WT1 disease. Missense substitutions affecting DNA-binding residues were associated with DMS (74%), early SRNS on set (median age 0.9y) and rapid progression to ESRD (median age 2.5y), whereas truncating mutations conferred the highest Wilms tumor risk (78%) but typically late-onset SRNS (median onset age 12.3y, ESRD age 16.5y). Intronic (KTS) mutations were most likely to present as isolated SRNS (37%) with median onset at 4.5y, FSGS on biopsy and slow progression (median ESRD age 13.6y).

Conclusion

In view of the wide range of expressivity, solid genotype-phenotype associations and high risk and significance of extrarenal complications in WT1-associated nephropathy, we conclude that all children with SRNS should undergo WT1 gene screening.

Kewords