Congenital Anomalies of the Kidney and Urinary Tract: a Clinical Review

Stonebrook, Emily; Hoff, Mônica; Spencer, John David

doi:10.1007/s40746-019-00166-3

Cited by 34 publications

(23 citation statements)

References 84 publications

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“…CAKUT has a wide phenotypic spectrum of developmental defects [ 100 ]. The phenotypes of CAKUT consist of renal agenesis and hypodysplasia, cystic kidney disease, dysplastic kidney, hydronephrosis, ureteropelvic junction obstruction, ureter malformations, and vesicoureteral reflux.…”

Section: Mirnas In Congenital Abnormalities Of the Kidney And Urinmentioning

confidence: 99%

“…The phenotypes of CAKUT consist of renal agenesis and hypodysplasia, cystic kidney disease, dysplastic kidney, hydronephrosis, ureteropelvic junction obstruction, ureter malformations, and vesicoureteral reflux. CAKUT accounts for approximately 50% of pediatric end-stage renal disease [ 100 ]. Less than 18% of CAKUT cases are caused by established monogenic mutations [ 101 ].…”

Section: Mirnas In Congenital Abnormalities Of the Kidney And Urinmentioning

confidence: 99%

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Non-Coding RNAs in Hereditary Kidney Disorders

Zhou

2021

IJMS

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Single-gene defects have been revealed to be the etiologies of many kidney diseases with the recent advances in molecular genetics. Autosomal dominant polycystic kidney disease (ADPKD), as one of the most common inherited kidney diseases, is caused by mutations of PKD1 or PKD2 gene. Due to the complexity of pathophysiology of cyst formation and progression, limited therapeutic options are available. The roles of noncoding RNAs in development and disease have gained widespread attention in recent years. In particular, microRNAs in promoting PKD progression have been highlighted. The dysregulated microRNAs modulate cyst growth through suppressing the expression of PKD genes and regulating cystic renal epithelial cell proliferation, mitochondrial metabolism, apoptosis and autophagy. The antagonists of microRNAs have emerged as potential therapeutic drugs for the treatment of ADPKD. In addition, studies have also focused on microRNAs as potential biomarkers for ADPKD and other common hereditary kidney diseases, including HNF1β-associated kidney disease, Alport syndrome, congenital abnormalities of the kidney and urinary tract (CAKUT), von Hippel–Lindau (VHL) disease, and Fabry disease. This review assembles the current understanding of the non-coding RNAs, including microRNAs and long noncoding RNAs, in polycystic kidney disease and these common monogenic kidney diseases.

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Section: Mirnas In Congenital Abnormalities Of the Kidney And Urinmentioning

confidence: 99%

Section: Mirnas In Congenital Abnormalities Of the Kidney And Urinmentioning

confidence: 99%

Non-Coding RNAs in Hereditary Kidney Disorders

Zhou

2021

IJMS

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“…Nonetheless, some cysts tend to increase in size and can be sufficiently large to cause pain, hematuria, and/or urinary obstruction. 10 , 11 Under such conditions, treatment such as surgery is necessary. 12 , 13 It is widely thought that the size and the volume of SRCs influence renal function and determine the treatment plan.…”

Section: Introductionmentioning

confidence: 99%

Relationship Between Sporadic Renal Cysts and Renal Function Detected by Isotope Renography in Type 2 Diabetes

Li¹,

Lou²,

Su³

et al. 2022

DMSO

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Purpose This study aimed to reveal the relationship between the volume of sporadic renal cysts and renal function in patients with type 2 diabetes (T2D). Materials and Methods One hundred and seventy-one patients that underwent renal imaging and other routine examinations at the Shanghai Pudong Hospital were included in this study. The Gates’ method of glomerular filtration rate (GFR) was measured by 99m Tc-DTPA renal dynamic imaging in addition to the eGFR, calculated by the Chronic Kidney Disease Epidemiology Collaboration equation (CKD-EPI). Results Our results showed that BMI, total iGFR, and eGFR showed significant differences between patients with T2D with or without SRC (p < 0.05). Spearman correlation analysis showed that cyst volume was positively correlated with Scr and gender but not iGFR (p > 0.05). The total iGFR positively correlated with eGFR (r = 0.83, p < 0.0001) and negatively with Scr (r = −0.78, p < 0.0001), age (r = −0.43, p < 0.0001), duration of T2D (r = −0.25, p = 0.001), and BMI (r = −0.21, p = 0.006) but not gender (r = −0.03, p = 0.668). The multilinear regression model revealed that gender (β = 0.346, p < 0.001), iGFR (β = −0.705, p < 0.001), and serum uric acid (β = 0.195, p = 0.032) were independent predictors of Scr. Moreover, we observed a significant increase in Scr in males (p < 0.05). Finally, we found that the split kidney function reflected by iGFR and related parameters such as time to peak (PTT) and half time of excretion (excrete t1/2) did not mutually distinguish from each other significantly whether they are measured in patients with renal cysts or in those without renal cysts (p > 0.05). Conclusion Our preliminary results suggest that in T2D, SRCs may be a renal complication of diabetic nephropathy. Although we found that the patients with renal cysts may display reduced iGFR, the volume of simple cysts seems not to exacerbate renal insufficiency. Isotope renography is a useful tool to evaluate the split kidney functions in diabetic patients who acquire single-side cysts.

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“…Congenital anomalies of the kidneys and urinary tracts (CAKUT) account for roughly 20% of all birth defects [1]. CAKUT is not only associated with urinary tract infection (UTI), but also increases the risk of renal deficit in febrile UTI.…”

Section: Introductionmentioning

confidence: 99%

A novel clinical-radiomics model predicted renal lesions and deficiency in children on diffusion-weighted MRI

Kang

Zhang

et al. 2022

Front. Phys.

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Background: Assessment of renal lesions and deficiency accurately remains critical in the diagnosis of congenital anomalies of the kidneys and urinary tracts (CAKUT) in children. Advanced imaging such as Magnetic resonance Imaging (MRI) and Diffusion weighted Imaging (DWI) allows structural and functional insufficiency to be detected. Currently, radiomics machine learning models are being explored as full-automated diagnostic tools. We aimed to develop a machine learning integrated radiomics model to predict renal anomalies and deficiency in children.Methods: A retrospective study of 280 children with MRI/DWI were enrolled between 2018 and 202 at a children’s hospital. A total of 1,037 radiomics features were extracted from the DWI images of each participant, which were divided into training set and test set (8:2 split). Using 5-fold cross-validated method, multiple machine learning algorithms were employed to predict renal lesions and deficiency when compared with the radiologist’s diagnosis based on DWI, 99mTc-labeled dimercaptosuccinic acid (DMSA) SPECT cortical renal scintigraphy or 99mTc-labeled diethylenetriamine pentaacetate (DTPA) renal scan.Results: For detecting the kidney lesions, the LASSO + Random Forest algorithm outperformed other classifiers with an accuracy of 0.750 (95% confidence interval, 0.734–0.766) and area under the curve (AUC) of 0.765 (95% confidence interval, 0.700–0.831). The performance of classifiers did not show a significant difference (p > 0.05) in detecting bilateral or unilateral kidney lesions by DWI scanning. The classifiers performed significantly better in bilateral kidney deficit than in unilateral kidney deficit (p < 0.05). We next built prediction models for renal deficiency using the radiomics signature and clinical features compared to renal scintigraphy. The ensemble model had a high-test accuracy of 80.9% ± 4.2% and a sensitivity of 91.7% ± 7.1% with a moderate calibration.Conclusion: An ensemble model integrated with DWI-radiomic and clinical features can be utilized to predict renal lesions and deficiency in children with CAKUT.

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Congenital Anomalies of the Kidney and Urinary Tract: a Clinical Review

Cited by 34 publications

References 84 publications

Non-Coding RNAs in Hereditary Kidney Disorders

Non-Coding RNAs in Hereditary Kidney Disorders

Relationship Between Sporadic Renal Cysts and Renal Function Detected by Isotope Renography in Type 2 Diabetes

A novel clinical-radiomics model predicted renal lesions and deficiency in children on diffusion-weighted MRI

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