PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability.
Clin Kidney J
; 14(2): 704-706, 2021 Feb.
Article
en En
| MEDLINE
| ID: mdl-33623695
ABSTRACT
Pathogenic variants in PAX2 have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction, duplex kidney with hydronephrosis of upper pole system and bilateral kidney hypoplasia within the same family. Additionally, two family members were found to have optic nerve abnormalities further supporting the impact of the PAX2 variant. This is the first report of a PAX2 variant associated with bilateral kidney agenesis.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Clin Kidney J
Año:
2021
Tipo del documento:
Article
País de afiliación:
Dinamarca