Two Cases of Isolated Diffuse Mesangial Sclerosis with WT1 Mutations
Journal of Korean Medical Science
;
: 160-164, 2006.
Article
Dans Anglais
| WPRIM
| ID: wpr-71335
ABSTRACT
Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia. Direct sequencing of WT1 PCR products from genomic DNA identified WT1 mutations in exons 8 (366 Arg>His) and 9 (396 Asp>Tyr). These mutations have been reported previously in association with Denys-Drash syndrome (DDS) with early onset renal failure. Therefore we suggest that, at least in part, IDMS is a variant of DDS and that investigations for the WT1 mutations should be performed in IDMS patients. In cases with identified WT1 mutations, the same attention to tumor development should be required as in DDS patients, and karyotyping and serial abdominal ultrasonograms to evaluate the gonads and kidney are warranted.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
ADN
/
Analyse de mutations d'ADN
/
Séquence nucléotidique
/
Issue fatale
/
Protéines WT1
/
Mésangium glomérulaire
/
Mutation
/
Néphrosclérose
Limites du sujet:
Femelle
/
Humains
/
Bébé
/
Nouveau-né
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2006
Type:
Article
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