solitary functioning kidney
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Author(s):  
Nadide Melike Sav ◽  
Pelin Kosger ◽  
Betul Can ◽  
Nuran Cetin ◽  
Birsen Ucar ◽  
...  

Author(s):  
Özlem Yüksel AKSOY ◽  
Funda BAŞTUĞ ◽  
Binnaz ÇELİK

2021 ◽  
Vol 9 ◽  
Author(s):  
Mark J. C. M. van Dam ◽  
Bas S. H. J. Zegers ◽  
Michiel F. Schreuder

Unilateral renal agenesis and multicystic dysplastic kidney, resulting in a contralateral solitary functioning kidney (SFK), are part of the broad spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). In girls with SFK, screening for asymptomatic Müllerian anomalies of uterus and vagina is not yet routinely performed, and therefore often overlooked until clinical complications in the menstrual cycle or fertility process occur. In this case series, we report on four teenagers with congenital SFK presenting with menstrual problems due to a Müllerian anomaly. Routine peri-menarchal screening for Müllerian anomalies in girls with SFK may provide timely counseling, surgical treatment and prevention of associated complications such as endometriosis, infertility and miscarriages.


Author(s):  
Sander Groen in’t Woud ◽  
Loes F. M. van der Zanden ◽  
Michiel F. Schreuder

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiao Y. Zhou ◽  
Hao Y. Zheng ◽  
Li Han ◽  
Yan Wang ◽  
Li Zhang ◽  
...  

BackgroundThe lack of understanding of molecular pathologies of the solitary functioning kidney makes improving and strengthening the continuity of care between pediatric and adult nephrological patients difficult. Copy number variations (CNVs) account for a molecular cause of solitary functioning kidney, but characterization of the pathogenic genes remains challenging.MethodsIn our prospective cohort study, 99 fetuses clinically diagnosed with a solitary functioning kidney were enrolled and evaluated using chromosomal microarray analysis (CMA). The genetic drivers for the pathogenic CNVs were analyzed. We characterized QPRT localization in fetal kidneys using immunohistochemistry and its expression in adult kidneys using quantitative RT-PCR. Further, QPRT was knocked down using siRNA in human embryonic kidney (HEK293T) cells, and the cell cycle and proliferation were tested.ResultsBesides one Triple X syndrome and one Down syndrome, we identified a total of 45 CNVs out of 34 subjects. Among the 14 pathogenic CNVs, CNV 16p11.2 reached the highest number of records with the phenotype of kidney anomalies in the Decipher database. Among the 26 genes within the 16p11.2 region, as a key enzyme for nicotinamide adenine dinucleotide (NAD+) biosynthesis, QPRT was distinctly localized in renal tubules but was barely observed in renal interstitial and glomeruli in fetal kidneys. The loss of QPRT prevented cells’ efficient transition into S phase, affected cell-cycle progression, and abrogated proliferation of human embryonic kidney cells.ConclusionOur data suggest that QPRT is a candidate gene associated with susceptibility for solitary functioning kidney. The CNVs discovered in our study exhibit great potential for future applications in genetic counseling and pregnancy management.


2021 ◽  
Vol 56 (3) ◽  
pp. 219-223
Author(s):  
Hanife Gul Balki ◽  
◽  
Pinar Turhan ◽  
Cengiz Candan ◽  
◽  
...  

Author(s):  
Mathilde Grapin ◽  
François Gaillard ◽  
Nathalie Biebuyck ◽  
Melissa Ould-Rabah ◽  
Carole Hennequin ◽  
...  

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