scholarly journals Renal Coloboma Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Renal Coloboma Syndrome

SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP

2017 ◽  
pp. 1
Author(s):  
Lise Sels ◽  
Werner Dirven ◽  
Koenraad Devriendt ◽  
Anita Leys
Keyword(s):  
Severe Case ◽  
Long Term Follow Up ◽  
Renal Coloboma Syndrome

PAX2 and the Renal-Coloboma Syndrome

2016 ◽  
pp. 777-779
Author(s):  
Michael R. Eccles ◽  
Matthew Bower ◽  
Lisa A. Schimmenti
Keyword(s):  
Renal Coloboma Syndrome

PAX2 and Renal-Coloboma Syndrome

The Kidney ◽  
2003 ◽  
pp. 411-432
Author(s):  
Michael Eccles ◽  
Nicholas Bockett ◽  
Cherie Stayner
Keyword(s):  
Renal Coloboma Syndrome

scholarly journals Renal coloboma syndrome

2011 ◽  
Vol 19 (12) ◽  
pp. 1207-1212 ◽  
Author(s):  
Lisa A Schimmenti
Keyword(s):  
Renal Coloboma Syndrome

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation

2009 ◽  
Vol 72 (12) ◽  
pp. 497-500 ◽  
Author(s):  
T. Miyazawa ◽  
M. Nakano ◽  
Y. Takemura ◽  
K. Miyazaki ◽  
H. Yanagida ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene

Renal coloboma syndrome associated with double- chambered right ventricle

2013 ◽  
Author(s):  
Gokcen Gokce ◽  
Yalcin Gokoglan ◽  
Volkan Hurmeric ◽  
Fazil Cuneyt Erdurman ◽  
Osman Melih Ceylan ◽  
...  
Keyword(s):  
Right Ventricle ◽  
Renal Coloboma Syndrome

Vesico-ureteric reflux and urinary tract development in the Pax21Neu+/− mouse

2007 ◽  
Vol 293 (5) ◽  
pp. F1736-F1745 ◽  
Author(s):  
Inga J. Murawski ◽  
David B. Myburgh ◽  
Jack Favor ◽  
Indra R. Gupta
Keyword(s):  
Urinary Tract ◽  
Bladder Wall ◽  
Delayed Union ◽  
Metanephric Mesenchyme ◽  
Ureteric Bud ◽  
Urinary Tract Abnormality ◽  
Mesonephric Duct ◽  
Renal Coloboma Syndrome ◽  
Tract Infections ◽  
Dominant Condition

Vesico-ureteric reflux (VUR) is a urinary tract abnormality that affects roughly one-third of patients with renal-coloboma syndrome, an autosomal dominant condition caused by a mutation in PAX2. Here, we report that a mouse model with an identical mutation, the Pax2 1Neu+/− mouse, has a 30% incidence of VUR. In VUR, urine flows retrogradely from the bladder to the ureter and is associated with urinary tract infections, hypertension, and renal failure. The propensity to reflux in the Pax2 1Neu+/− mouse is correlated with a shortened intravesical ureter that has lost its oblique angle of entry into the bladder wall compared with wild-type mice. Normally, the kidney and urinary tract develop from the ureteric bud, which grows from a predetermined position on the mesonephric duct. In Pax2 1Neu+/− mice, this position is shifted caudally while surrounding metanephric mesenchyme markers remain unaffected. Mutant offspring from crosses between Pax2 1Neu+/− and Hoxb7/GFP+/− mice have delayed union of the ureter with the bladder and delayed separation of the ureter from the mesonephric duct. These events are not caused by a change in apoptosis within the developing urinary tract. Our results provide the first evidence that VUR may arise from a delay in urinary tract maturation and an explanation for the clinical observation that VUR resolves over time in some affected children.

Renal coloboma syndrome

Ophthalmology ◽  
2001 ◽  
Vol 108 (10) ◽  
pp. 1912-1916 ◽  
Author(s):  
Pascal Dureau ◽  
Tania Attie-Bitach ◽  
Rémi Salomon ◽  
Olivier Bettembourg ◽  
Jeanne Amiel ◽  
...  
Keyword(s):  
Renal Coloboma Syndrome
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