WT1-Related Nephropathy in a Phenotypically Female Child
A Case of Clinical and Genetic Discordance
Bibliographic Data
WT1-related disorders comprise a spectrum of conditions resulting from mutations or deletions of the WT1 gene. Alteration in this gene have been associated with many syndromes, including WAGR syndrome, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and Meacham syndrome. We present the case of an 8-year-old phenotypically female child with symptoms of end-stage kidney disease (ESKD), hypertension and anasarca, requiring renal replacement therapy. This case is distinctive due to its unusual onset, the presence of thrombotic microangiopathy (TMA), and the detection of a heterozygous missense mutation in the WT1 gene (c.1298G>A, p.Cys433Tyr) located in exon 8, in association with a 46 XY karyotype. The kidney biopsy indicated advanced focal segmental glomerulosclerosis (FSGS) with characteristics of TMA, implying a possible alternative diagnosis. In light of the heightened malignancy risk, the patient had preventative laparoscopic gonadectomy, which revealed rudimentary testicular tissues. The identified genotype points toward a diagnosis of DDS. However, the clinical presentation is more consistent with features typically seen in FS. This discrepancy highlights the significant phenotypic and genotypic overlap between the two syndromes. As a result, there is ongoing discussion in the literature about whether DDS and FS should be considered distinct clinical entities or rather variable expressions along a shared disease spectrum
Bioinformatics · Biology · Disease · Focal segmental glomerulosclerosis · Gene · Glomerulonephritis · Kidney · Kidney disease · Missense mutation · Pathology · Phenotype · Genetic and Kidney Cyst Diseases · Medicine · Renal and related cancers · Renal cell carcinoma treatment · Genetics · Internal Medicine
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