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Fetal Pediatr Pathol ; 40(2): 113-120, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31707902

RESUMO

Introduction: Denys-Drash Syndrome (DDS) consists of a triad of pseudohermaphroditism, Wilms'tumor and nephropathy. This condition may manifest as a complete triad or in an incomplete form; with either one or a combination of the above features. The characteristic glomerular abnormality in DDS is diffuse mesangial sclerosis (DMS).Case report: We report two cases of DDS with focal membranoproliferative glomerulonephritis (MPGN). Both of our cases were males with ambiguous genitalia. They had a similar heterozygous germline mutation in exon 9 of WT1, c.1180C>T, p.R394W; a known mutation hotspot for DDS. Case 1 had nephropathy at the age of 4 years and Case 2 at 2.5 years with different rates of progression to end-stage renal failure. Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress.


Assuntos
Síndrome de Denys-Drash , Glomerulonefrite Membranoproliferativa , Nefropatias , Síndrome Nefrótica , Tumor de Wilms , Pré-Escolar , Síndrome de Denys-Drash/genética , Genes do Tumor de Wilms , Glomerulonefrite Membranoproliferativa/genética , Humanos , Masculino , Mutação , Síndrome Nefrótica/genética , Proteínas WT1/genética , Tumor de Wilms/genética
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