scholarly journals Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney

2009 ◽  
Vol 24 (6) ◽  
pp. 1810-1818 ◽  
Author(s):  
M. F. Schreuder ◽  
R. Westland ◽  
J. A. E. van Wijk
2019 ◽  
Vol 12 (8) ◽  
pp. e229904
Author(s):  
Olivia R Wood ◽  
Tobias Else ◽  
Matthew G Sampson

Pathogenic variants in the RET gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted RET sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, RET variants have never been reported to cause MEN2A and CAKUT together. This child’s family history prompted RET sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of RET (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.


2018 ◽  
Vol 9 (2) ◽  
pp. 11
Author(s):  
Santosh Kumar Mahalik ◽  
Bikasha Bihary Tripathy ◽  
Akash Bihari Pati ◽  
Manoj Kumar Mohanty

Congenital anomalies of the kidney and urinary tract (CAKUT) is a disease spectrum of a wide range of structural and functional anomalies. In this report, we have presented a rare case of CAKUT displaying the wide spectrum of renal and urinary tract anomalies with an unusual association like single system ectopic giant megaureter with the ipsilateral multicystic dysplastic kidney.


PRILOZI ◽  
2021 ◽  
Vol 42 (1) ◽  
pp. 77-81
Author(s):  
Natasha Aluloska ◽  
Snezana Palchevska ◽  
Risto Simeonov ◽  
Zoran Gucev ◽  
Velibor Tasic

Abstract Multicystic dysplastic kidney is a rare congenital anomaly of the kidney and urinary tract. The association with the posterior urethral valve is also very rare. Here we present a patient with both entities and prenatal resolution of the cysts. A 10-week old baby was referred for nephrourological work up due to prenatal diagnosis of the left multicystic kidney. He had serial US scans during the pregnancy. Immediately before delivery the cysts were not seen (prenatal resolution). There were no extrarenal anomalies. The first postnatal ultrasound scan revealed normal sized right kidney without dilatation of the pelvicalyceal system. The bladder had normal thickness of the wall. Technetium-99m dimercaptosuccinic acid scan showed no activity on the left side, and the right kidney appeared normal. At two months of age, a poor urinary steam was observed and additional urologic work up was indicated on clinical suspicion of PUV. Voiding urethrocystography revealed posterior urethral valve and the baby underwent cytoscopic valve resection. Conclusion: We present a rare association of two congenital anomalies of the kidney and urinary tract with prenatal involution of the multicystic dysplastic kidney that is extremely rare event as seen in our case. Presence of posterior urethral valve must be suspected in a male baby with a poor urinary stream even when his ultrasound scan of urinary system appears normal.


1995 ◽  
Vol 25 (4) ◽  
pp. 275-277 ◽  
Author(s):  
K. Kaneko ◽  
Y. Suzuki ◽  
Y. Fukuda ◽  
K. Yabuta ◽  
T. Miyano

2022 ◽  
pp. 205141582110481
Author(s):  
Subramanya Kattepura ◽  
Attibele Mahadevaiah Shubha ◽  
Kanishka Das

Introduction: Distal ureteral atresia is a rare urinary tract anomaly generally associated with ipsilateral renal dysplasia and abnormalities such as multicystic dysplastic kidney, hydronephrosis and megaureter in the contralateral kidney. Despite burgeoning investigation modalities, definitive preoperative diagnosis of this condition is rarely feasible, also the embryological disarray of events that result in the development of this anomaly and the associated malformations is not clearly understood. Case presentation: We hereby report two cases of distal ureteral atresia and discuss the diversity in their presentations, diagnosis, atypical associations and management and review the possible embryological mal-development. Conclusion: Distal ureteral atresia with urogenital sinus as in Case 1 has not been documented so far and a plausible embryological explanation is deduced regarding its occurrence. The course of the affected kidney following timely and adequate relief of obstruction in Case 2 is depicted, highlighting the eventual management. Level of evidence: Not applicable


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