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Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene
Ist Teil von
European journal of pediatrics, 2011-12, Vol.170 (12), p.1529-1534
Ort / Verlag
Berlin/Heidelberg: Springer-Verlag
Erscheinungsjahr
2011
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
Mutations in the Wilms’ tumor suppressor gene 1 (
WT1
), most commonly within exons 8 or 9 or intron 9, are found in cases with the overlapping conditions of Denys–Drash and Frasier syndromes, as well as in patients with steroid-resistant nephrotic syndrome (SRNS). This study investigated the presence of
WT1
gene mutations in cases with childhood SRNS, along with an evaluation of their clinical outcome. Twenty-seven Greek children with sporadic (19 cases) and familial (8 cases) SRNS were tested. Four phenotypically female patients with sporadic SRNS were found to carry de novo
WT1
mutations, including two cases with p.R394W, and one case each with p.R366H, or n.1228+5G>A. Karyotype analysis found 46XX in three cases, but 46XY in one. No phenotype–genotype correlations were apparent in the
WT1
gene positive cases since their clinical presentation varied broadly. Interestingly, one patient with a pathological
WT1
nucleotide variation responded fully to combined therapy with cyclosporine A and corticosteroids. This study further illustrates that investigation of
WT1
gene mutations is clinically useful to support definitive diagnosis in children presenting with SRNS in order to direct the most appropriate clinical management.