PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability

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 b...

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Detalles Bibliográficos
Autores principales: Rasmussen, Maria, Nielsen, Marlene Louise, Manak, J Robert, Mogensen, Helle, Lildballe, Dorte L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Exceptional Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886549/
https://www.ncbi.nlm.nih.gov/pubmed/33623695
http://dx.doi.org/10.1093/ckj/sfaa013
Descripción
Sumario: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.

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