scholarly journals Ureteropelvic junction obstruction in lower pole moiety of duplex kidney

2012 ◽  
Author(s):  
Yair Glick ◽  
Chris O'Donnell
Keyword(s):  
Ureteropelvic Junction Obstruction ◽  
Ureteropelvic Junction ◽  
Lower Pole ◽  
Duplex Kidney

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

2020 ◽  
Author(s):  
Maria Rasmussen ◽  
Marlene Louise Nielsen ◽  
J Robert Manak ◽  
Helle Mogensen ◽  
Dorte L Lildballe
Keyword(s):  
Optic Nerve ◽  
Ureteropelvic Junction Obstruction ◽  
Minimal Change ◽  
Ureteropelvic Junction ◽  
Duplex Kidney ◽  
Pathogenic Variants ◽  
Novel Variant ◽  
Renal Coloboma Syndrome ◽  
The Impact ◽  
Pole System

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.

Reconstructive surgery for lower pole ureteropelvic junction obstruction associated with incomplete ureteral duplication

2009 ◽  
Vol 5 (5) ◽  
pp. 374-377 ◽  
Author(s):  
Brian A. VanderBrink ◽  
Mark P. Cain ◽  
David Gilley ◽  
Kirstan K. Meldrum ◽  
Richard C. Rink
Keyword(s):  
Reconstructive Surgery ◽  
Ureteropelvic Junction Obstruction ◽  
Ureteropelvic Junction ◽  
Lower Pole ◽  
Ureteral Duplication
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