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

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.

2019 ◽  
Vol 7 (1) ◽  
pp. 76
Author(s):  
Debanga Sarma ◽  
Sarbartha Kumar Pratihar ◽  
Rajeev T. P. ◽  
Sasanka K. Barua ◽  
Puskal K. Bagchi ◽  
...  

Background: Duplex kidneys are common developmental renal anomaly with an incidence of 1% in healthy adult population.Adult individuals may present as non-functional moiety, calculus disease or an incidental finding. Duplex kidney is defined as a renal unit comprised of two pelvicalyceal systems. Based on the degree of fusion, it can present as bifid renal pelvis, partial ureteric duplication (Y-shaped ureter), incomplete ureteric duplication with ureters joining near or in bladder wall (V-shaped ureter) and complete ureteric duplication with separate ureteric orifices. The purpose of this study is to retrospectively review the various duplex kidney anomalies and associated pathology.Methods: This is a retrospective study, performed at Department of Urology, Gauhati Medical College Hospital, a tertiary centre, from September, 2018 to August, 2019. Preoperative imaging, plain intravenous urography or computed tomography intravenous urography was done.Results: 29 patients were diagnosed with variants of duplex kidney anomaly. It includes right side, left side and bilateral anomalies. Among all the patients 4 had incidental findings. 16 patients had associated renal or ureteral calculus. 5 patients had associated ureteropelvic junction obstruction while 1 patient had ureterovesical junction stricture. We found single patient in each group of duplex kidney anomaly associated with non-functional moiety with renal cell carcinoma, ureterocele with urothelial malignancy and horseshoe kidney with ureteropelvic junction obstruction respectively.Conclusions: Duplex kidney anomaly in most individuals is of no clinical significance. High index of suspicion along with good quality imaging can accurately detect specific anomaly and associated condition.


2020 ◽  
Author(s):  
Wojciech Panek ◽  
Dawid Janczak ◽  
Marta Panek ◽  
Urszula Szydełko ◽  
Rafał Chrzan ◽  
...  

Abstract Background: A change in the assessment of treatment effectiveness is currently observed. More and more emphasis is being placed on assessing the impact of treatment on patients’ quality of life (QoL). Data on postoperative quality of life in patients undergoing pyeloplasty is scarce. The aim of the study was to assess the quality of life of patients who had undergone laparoscopic pyeloplasty due to ureteropelvic junction obstruction.Methods: The study group consisted of 95 patients who had consecutively undergone laparoscopic pyeloplasty due to ureteropelvic junction obstruction in a single center, between 2002 and 2009, from whom 26 consented to participate in a study. We evaluated their quality of life using WHOQOL-BREF questionnaire and an additional form, created by one of the authors, prepared to assess specifically health related quality of life after pyeloplasty. In all the patients, postoperative, functional outcome was assessed using diuretic renography. Results: Mean follow-up time was 89.8 months. Overall, 96% of study patients were satisfied with the procedure and all of them would consent to another pyeloplasty if needed. Dissatisfaction of one patient was caused by an insufficient decrease in pain level. All the patients reported that the postoperative pain intensity did not significantly affect their life and professional activity. Conclusions: Laparoscopic pyeloplasty is associated with excellent functional outcomes and - most of all - the majority of patients are satisfied with the treatment results. There seems to be no correlation between functional outcome and postoperative satisfaction.


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