Fluorinated 1,7-DO2A-Based Iron(II) Complexes as Sensitive 19F MRI Molecular Probes for Visualizing Renal Dysfunction in Living Mice.

Kidney diseases have become an important global health concern due to their high incidence, inefficient diagnosis, and poor prognosis. Devising direct methods, especially imaging means, to assess renal function is the key for better understanding the mechanisms of various kidney diseases and subsequent development of effective treatment. Herein, we developed a fluorinated ferrous chelate-based sensitive probe, 1,7-DO2A-Fe(II)-F18 (Probe 1), for 19F magnetic resonance imaging (MRI). This highly fluorinated probe (containing 18 chemically equivalent 19F atoms with a fluorine content at 35 wt %) achieves a 15-time enhancement in signal intensity compared with the fluorine-containing ligand alone due to the appropriately regulated 19F relaxation times by the ferrous ion, which significantly increases imaging sensitivity and reduces acquisition time. Owing to its high aqueous solubility, biostability, and biocompatibility, this probe could be rapidly cleared by kidneys, which provides a means for monitoring renal dysfunction via 19F MRI. With this probe, we accomplish in vivo imaging of the impaired renal dysfunction caused by various kidney diseases including acute kidney injury, unilateral ureteral obstruction, and renal fibrosis at different stages. Our study illustrates the promising potential of Probe 1 for in vivo real-time visualization of kidney dysfunction, which is beneficial for the study, diagnosis, and even stratification of different kidney diseases. Furthermore, the design strategy of our probe is inspiring for the development of more high-performance 19F MRI probes for monitoring various biological processes.

Amide Proton Transfer-Weighted Magnetic Resonance Imaging for Application in Renal Fibrosis: A Radiological-Pathological-Based Analysis.

INTRODUCTION: Renal fibrosis (RF), being the most important pathological change in the progression of CKD, is currently assessed by the evaluation of a biopsy. This present study aimed to apply a novel functional MRI (fMRI) protocol named amide proton transfer (APT) weighting to evaluate RF noninvasively. METHODS: Male Sprague-Dawley (SD) rats were initially subjected to bilateral kidney ischemia/reperfusion injury (IRI), unilateral ureteral obstruction, and sham operation, respectively. All rats underwent APT mapping on the 7th and 14th days after operation. Besides, 26 patients underwent renal biopsy at the Nephrology Department of Shanghai Tongji Hospital between July 2022 and May 2023. Patients underwent APT and apparent diffusion coefficient (ADC) mappings within 1 week before biopsy. MRI results of both patients and rats were calculated by comparing with gold standard histology for fibrosis assessment. RESULTS: In animal models, the cortical APT (cAPT) and medullary APT (mAPT) values were positively correlated with the degree of RF. Compared to the sham group, IRI group showed significantly increased cAPT and mAPT values on the 7th and 14th days after surgery, but no group differences were found in ADC values. Similar results were found in human patients. Cortical/medullary APT values were significantly increased in patients with moderate-to-severe fibrosis than in patients with mild fibrosis. ROC curve analysis indicated that APT value displayed a better diagnostic value for RF. Furthermore, combination of cADC and cAPT improved fibrosis detection by imaging variables alone (p < 0.1). CONCLUSION: APT values had better diagnostic capability at early stage of RF compared to ADC values, and the addition of APT imaging to conventional ADC will significantly improve the diagnostic performance for predicting kidney fibrosis.

Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.

We report a fetus with prenatal ultrasound at 21 gestational weeks showing left cystic renal dysplasia with subcapsular cysts and echogenic parenchyma, right echogenic kidney with absent corticomedullary differentiation, and left congenital diaphragmatic hernia (CDH) with bowel herniation, with intestinal atresia (IA) found on postmortem examination. Whole genome sequencing of fetal blood DNA revealed a heterozygous pathogenic variant c.344 + 2 T>G in the HNF1B gene (NM_000458). Sanger sequencing of the parental samples suggested that it arose de novo in the fetus. HNF1B-associated disorders affect multiple organs with significant phenotypic heterogeneity. In pediatric and adult patients, renal cystic disease and cystic dysplasia are the dominant phenotypes. In prenatal settings, renal anomaly is also the most common presentation, typically with bilateral hyperechogenic kidneys. Our case presented with two uncommon extra-renal phenotypes of CDH and IA besides the typical bilateral cystic renal dysplasia. This association has been reported in fetuses with 17q12 microdeletion but not with HNF1B point mutation. Our case is the first prenatal report of such an association and highlights the possible causal relationship of HNF1B defects with CDH and IA in addition to the typical renal anomalies.

A novel NONO nonsense variant in a fetus with renal abnormalities.

At 16 + 6-weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbilical artery, and oligohydramnios. Trio exome sequencing analysis detected a novel pathogenic NONO variant. Postmortem examination after the termination of pregnancy confirmed the ultrasound findings and also revealed pulmonary hypoplasia, retrognathia and low-set ears. The variant was a novel de novo hemizygous pathogenic loss-of-function variant in NONO [NM_007363.5], associated with a rare X-linked recessive neurodevelopmental disorder, named intellectual developmental disorder, X-linked syndromic 34 (OMIM#300967). The postnatal characteristic features of this disorder include intellectual disability, developmental delay, macrocephaly, structural abnormalities involving the corpus callosum and/or cerebellum, left ventricular noncompaction and other congenital heart defects. In the prenatal setting, the phenotype has been poorly described, with all described cases presenting with heart defects. This case highlights the need of further clinical delineation to include renal abnormalities in the prenatal phenotype spectrum.

Ultrasound-based quantitative tools in predicting renal involvement in asymptomatic primary hyperparathyroidism.

PURPOSE: Asymptomatic primary hyperparathyroidism (aPHPT) has been recognized as a condition that can lead to renal complications. Timely identification of prognostic indicators for renal impairment holds the potential to facilitate proactive monitoring and treatment strategies in these patients. This study aims to investigate the utility of acoustic radiation force impulse (ARFI) imaging and renal resistive index (RRI), in identifying renal parenchymal and vascular changes in patients with aPHPT. METHODS: Forty-two patients with aPHPT and 42 controls matched for age, sex, and body mass index were included in the study. The presence of renovascular changes was evaluated by RRI measurement with Doppler ultrasonography, and the presence of renal parenchymal involvement was evaluated by ARFI quantification, given as shear wave velocity (SWV). RESULTS: In aPHPT patients, both the mean RRI and mean SWV values exhibited substantial elevation compared to the control group (P < 0.001 for both). Significant associations were observed between SWV values and serum calcium, parathyroid hormone (PTH), and adenoma size within the patient group (P < 0.001, P < 0.001, P = 0.016, respectively). Similarly, the mean RRI demonstrated positive correlations with serum calcium and PTH levels in the patient group (P< 0.001, P = 0.011, respectively). Multivariate linear regression analysis underscored the connection between mean RRI and mean SWV values with serum calcium levels within the patient group. In addition, serum PTH levels affected mean SWV positively and significantly. CONCLUSION: The use of ARFI imaging and RRI measurements appears to hold potential in identifying renal involvement in patients with aPHPT.

A case of renal sarcoidosis complicated by parotid gland and uterine lesions.

BACKGROUND: Sarcoidosis is a systemic disease that can affect multiple organs. While pulmonary sarcoidosis is most commonly observed, renal sarcoidosis occurs less frequently. We herein report a case of sarcoidosis with an exceptionally rare distribution including renal lesions. CASE PRESENTATION: A 51-year-old Japanese female was referred because of bilateral parotid swelling and renal dysfunction. Computed tomography scan showed the swelling of bilateral kidneys, parotid glands, and uterus. Ga scintigraphy also showed remarkable accumulation in these organs. Renal biopsy and cytological evaluations of parotid gland and uterus were performed and she was diagnosed as sarcoidosis of these organs. Treatment was initiated with prednisolone 40 mg/day and then renal dysfunction subsequently improved. In addition, the swelling of parotid glands and uterus improved and Ga accumulation in each organ had disappeared. CONCLUSION: This is a first case of renal sarcoidosis complicated by parotid glands and uterus lesions. Pathological findings and the reactivity observed in Ga scintigraphy indicated the presence of lesions in these organs.

Doppler Ultrasound of the Renal Vasculature.

Ultrasound is the first-line imaging modality used in patients with suspected renovascular disease. Common indications include renovascular hypertension and unexplained renal dysfunction. We review the ultrasound imaging findings of various pathologies involving the renal vessels, including the renal arteries (atherosclerotic stenosis, fibromuscular dysplasia, dissection, arteriovenous fistula, and aneurysm) and veins (tumor and bland thrombus as well as vascular compression syndromes). The current role of renal artery stent placement for atherosclerotic stenosis is also discussed.

A Rare Case of Page Kidney in a Young Man with Flank Pain.

BACKGROUND: Page kidney is a rare condition in which an external compression of the kidney as a result of a hematoma or mass causes renal ischemia and hypertension. In a patient with flank pain, elevated blood pressure, and recent trauma, this condition should be considered. Since this condition was first described in 1939, more than 100 case reports have surfaced. CASE REPORT: We describe the case of a 26-year-old man who presented to the Emergency Department with flank pain, vomiting, and elevated blood pressure. A computed tomography scan of the abdomen and pelvis confirmed the presence of a perinephric hematoma, and the interventional radiology team was consulted to resolve the Page kidney. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Symptoms seen in Page kidney may be similar to other more common diagnoses encountered in the emergency department. It is important to maintain a high suspicion and order imaging studies as needed, especially in the setting of trauma, or a recent procedure in the vicinity of the renal parenchyma.

Prevalence of canine renal crest hyperattenuation in precontrast computed tomography.

Normal canine kidneys are relatively homogeneous soft tissue attenuating structures on nonenhanced CT images. However, visible differences in attenuation between the renal crest and medulla are occasionally observed. This finding and its potential clinical implications have not been previously investigated. This study aimed to estimate the prevalence of renal crest hyperattenuation (RCH) and investigate possible associations with signalment and laboratory parameters. Abdominal CT studies from 100 dogs, with biochemistry and urinalysis data obtained within 48 h before the CT acquisition, were categorized by two radiologists into those with and without visible RCH. The attenuation in Hounsfield units (HU) of the renal crest and renal medulla were measured. Signalment, biochemical, and urinalysis data were analyzed for associations with RCH. Correlation coefficients were calculated for measured HU and associated continuous parameters. Prevalence of RCH was 42.42% (42/99 dogs, 95% CI, 33-52%). Urinary specific gravity (USG) was significantly different between dogs with and without RCH (P = .034). Weak positive correlations were identified between left and right renal crest attenuation and USG (r = 0.233 and 0.253, respectively; P = .05). Renal crest hyperattenuation is a common finding in dogs undergoing abdominal CT. Although the correlation between the USG and renal crest HU is weak, the dogs with RCH have significantly higher USG. Renal crest hyperattenuation might, therefore, not be associated with renal insufficiency. No other specific associations of RCH were identified with parameters typically altered in a variety of diseases. Further investigation may be warranted for its relevance to specific diseases or if it indeed represents a physiological variant.

Quantitative studies on B-mode ultrasound and point shear wave elastography of kidneys in nonazotemic dogs.

Renal diseases in dogs can be diagnosed effectively using B-mode ultrasound. Point shear wave elastography (pSWE) has demonstrated usefulness in diagnosing renal diseases in human medicine. However, its application in veterinary medicine is in its nascent stage. It was hypothesized that establishing pSWE reference values in nonazotemic dogs would prove valuable in differentiating renal diseases. In light of this, a single-center, quantitative study with an objective to normalize B-mode ultrasound parameters and pSWE values of the kidney in nonazotemic dogs was conducted. A total of 198 animals presented with clinical signs of anorexia, vomiting, weight loss, and dehydration were enrolled in the study spanning 2 years. Among them, 52 nonazotemic dogs were included as subjects for the study. B-mode ultrasound quantitative parameters, including length (L), breadth (B), height (H), cortical thickness (RCT), and medulla thickness (RMT) of the kidneys, as well as the diameter of the aorta (Ao), were normalized. Additionally, calculated parameters such as L:Ao, B:Ao, H:Ao, RCT:Ao, and corticomedullary ratios were worked out. Point shear wave elastography values were obtained from the cranial and caudal poles of renal cortices using ElastPQ stiffness software. The pSWE values of kidneys in nonazotemic dogs were normalized. The mean ± standard error values were 1.04 ± 0.08 m/s (95% confidence interval: 0.88-1.19 m/s) and 4.18 ± 0.62 kPa (95% confidence interval: 2.93-5.42 kPa). In conclusion, B-mode ultrasound quantitative parameters, ratios, and pSWE values were normalized in nonazotemic dogs, which may prove valuable in differentiating renal pathologies in canine patients.

Deep learning-based segmentation and quantification of podocyte foot process morphology suggests differential patterns of foot process effacement across kidney pathologies.

Morphological alterations at the kidney filtration barrier increase intrinsic capillary wall permeability resulting in albuminuria. However, automated, quantitative assessment of these morphological changes has not been possible with electron or light microscopy. Here we present a deep learning-based approach for segmentation and quantitative analysis of foot processes in images acquired with confocal and super-resolution fluorescence microscopy. Our method, Automatic Morphological Analysis of Podocytes (AMAP), accurately segments podocyte foot processes and quantifies their morphology. AMAP applied to a set of kidney diseases in patient biopsies and a mouse model of focal segmental glomerulosclerosis allowed for accurate and comprehensive quantification of various morphometric features. With the use of AMAP, detailed morphology of podocyte foot process effacement was found to differ between categories of kidney pathologies, showed detailed variability between diverse patients with the same clinical diagnosis, and correlated with levels of proteinuria. AMAP could potentially complement other readouts such as various omics, standard histologic/electron microscopy and blood/urine assays for future personalized diagnosis and treatment of kidney disease. Thus, our novel finding could have implications to afford an understanding of early phases of kidney disease progression and may provide supplemental information in precision diagnostics.

Renal MRI: From Nephron to NMR Signal.

Renal diseases pose a significant socio-economic burden on healthcare systems. The development of better diagnostics and prognostics is well-recognized as a key strategy to resolve these challenges. Central to these developments are MRI biomarkers, due to their potential for monitoring of early pathophysiological changes, renal disease progression or treatment effects. The surge in renal MRI involves major cross-domain initiatives, large clinical studies, and educational programs. In parallel with these translational efforts, the need for greater (patho)physiological specificity remains, to enable engagement with clinical nephrologists and increase the associated health impact. The ISMRM 2022 Member Initiated Symposium (MIS) on renal MRI spotlighted this issue with the goal of inspiring more solutions from the ISMRM community. This work is a summary of the MIS presentations devoted to: 1) educating imaging scientists and clinicians on renal (patho)physiology and demands from clinical nephrologists, 2) elucidating the connection of MRI parameters with renal physiology, 3) presenting the current state of leading MR surrogates in assessing renal structure and functions as well as their next generation of innovation, and 4) describing the potential of these imaging markers for providing clinically meaningful renal characterization to guide or supplement clinical decision making. We hope to continue momentum of recent years and introduce new entrants to the development process, connecting (patho)physiology with (bio)physics, and conceiving new clinical applications. We envision this process to benefit from cross-disciplinary collaboration and analogous efforts in other body organs, but also to maximally leverage the unique opportunities of renal physiology. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY STAGE: 2.

Endometriosis in an ectopic kidney: a rare case report and literature review.

BACKGROUND: Endometriosis mainly occurs in female pelvic organs. Endometriosis in the kidney is extremely rare. CASE PRESENTATION: We herein describe a case of a 19-year-old girl with occasional mild abdominal pain associated with an ectopic left kidney. SPECT-CT showed no abnormal radioactive distribution in the left pelvis, suggesting loss of function of the ectopic kidney. Laparoscopic left ectopic kidney resection was subsequently performed. Histopathology revealed endometriosis of the ectopic left kidney. CONCLUSIONS: In female patients with clinical manifestations of abdominal pain and gross hematuria, the possibility of renal endometriosis should be considered.

A rare case of a combination of ectopic kidney and medial arcuate ligament syndrome: a case report.

BACKGROUND: Ectopic kidney and median arcuate ligament syndrome are both rare conditions. The clinical presentation and diagnosis of these conditions are not well studied. There are no reports on the combination of these two rare conditions. CASE PRESENTATION: We report a 24-year-old woman with fever, dysuria, urinary frequency and left flank pain for two days. The primary diagnoses in the clinic were left acute pyelonephritis and left hydronephrosis due to throbbing pain in the left costovertebral angle and pyuria. However, further computed tomography showed right ectopic pelvic kidney, left renal pelvis dilatation without definite ureteral lesion, good bilateral renal contrast enhancement, and compression of the celiac axis due to obstruction by the median arcuate ligament. Chronic abdominal symptoms were reported by the patient after repeat history taking. The patient's condition was fully explained and discussed with her and her family, but they refused further therapy. After the acute pyelonephritis began improving, the patient was discharged for follow-up at our outpatient clinic. CONCLUSION: We present an extremely rare case of a combination of two rare conditions: ectopic kidney and median arcuate ligament syndrome. No study to date has reported on the relationship between the two diseases. Given the rarity of the two conditions, no evidence or even a hypothesis exists to explain the possible etiology of their combination. More reports are required to enhance the understanding of these rare conditions.

The value of shear wave elasticity and shear wave dispersion imaging to evaluate the viscoelasticity of renal parenchyma in children with glomerular diseases.

BACKGROUND: To study the value of shear wave elasticity and shear wave dispersion imaging to evaluate the viscoelasticity of renal parenchyma in children with glomerular diseases. METHODS: Forty-three children with glomerular diseases were prospectively evaluated by shear wave elasticity (SWE) and shear wave dispersion imaging (SWD); 43 healthy volunteers served as the control group. The shear wave velocities (SWV) and the dispersion slopes were measured at the upper, middle, and lower poles of both kidneys. The analysis of mean SWV and mean dispersion slope in control and patient groups was used to further evaluate the value of SWE and SWD in the viscoelasticity of renal parenchyma in children with glomerular disease. RESULTS: The mean SWV in children with glomerular disease was higher than that in the healthy control group (1.61 ± 0.09 m/s vs. 1.43 ± 0.07 m/s, p < 0.001). Compared with healthy group, the mean dispersion slope in children with glomerular disease was significantly increased (13.5 ± 1.39 (m/s)/kHz vs. 12.4 ± 1.40 (m/s)/kHz, p < 0.001). Correlation analysis showed absence of correlation between the SWV and dispersion slope of occult blood, serum creatinine, 24-h urine protein, blood albumin, BMI and ROI box depth of children with glomerular disease. CONCLUSIONS: The present study shows that it is feasible to use SWE and SWD to evaluate the difference of viscoelasticity of the renal parenchyma between healthy children and those with glomerular disease.

Evaluation of renal parenchyma stiffness in children with nephropathy by shear wave elastography: A systematic review and meta-analysis.

BACKGROUND: The role of shear wave elastography (SWE) in assessing renal parenchymal stiffness in children with nephropathy is obscure. This systematic review and meta-analysis investigated this issue. MATERIALS AND METHODS: PubMed, Embase, Web of Science, and the Cochrane Library databases were searched for studies evaluating renal parenchyma stiffness in children with nephropathy by SWE from inception to October 2021. The search was not limited by language. Two investigators independently screened the literature and extracted data. Any discrepancies were resolved via discussion with the senior professor. Study quality was assessed by the Newcastle-Ottawa Scale and the standardized mean difference of shear wave velocity (SWV) for the evaluation of renal parenchyma stiffness was determined. RESULTS: Eight studies involving a total of 496 children with nephropathy and 353 healthy children were selected. Eight studies used SWV as parameters of renal parenchyma stiffness. The SWV was not significantly different in children with renal lesion than in those without renal lesion, with a standardized mean difference of 0.49 (95% confidence level, -0.40 to 1.39, p = 0.28). There was a high heterogeneity between studies. CONCLUSION: Although there was significant difference in SWE of renal parenchyma between controls and patients in each study we included, statistical differences were not seen after results of all research were amalgamated due to different diseases with different pathomechanisms. SWE could be used to evaluate renal parenchymal stiffness in children with kidney disease after more well-designed and high-quality studies with a large sample size will be performed in the future.

High-Frequency US for BK Polyomavirus-associated Nephropathy after Kidney Transplant.

Background BK polyomavirus-associated nephropathy (BKPyVAN) is an important cause of chronic renal allograft dysfunction. However, US features indicative of BKPyVAN have not been fully evaluated. Purpose To assess the value of high-frequency US for the diagnosis of BKPyVAN in kidney transplant recipients. Materials and Methods In this prospective cohort study, participants who tested positive for BK viruria after kidney transplant from September 2019 to January 2021 were evaluated with high-frequency US 1 day before biopsy. Clinical characteristics and US features were compared between participants with and without BKPyVAN. Significant predictors associated with BKPyVAN were determined using logistic regression analyses. The area under the receiver operating characteristic curve (AUC) was used to evaluate diagnostic performance. Results A total of 105 participants who underwent kidney transplant (mean age, 38 years ± 11 [SD]; 63 men) were evaluated; 45 participants were diagnosed with BKPyVAN. Multivariable analysis demonstrated that eccentric hydronephrosis and subcapsular hypoechoic areas were independent factors for BKPyVAN. The AUC for predicting BKPyVAN according to subcapsular hypoechoic areas was 0.66 (95% CI: 0.55, 0.77), with a specificity of 92% (55 of 60 participants). The AUC of combined US (eccentric hydronephrosis plus subcapsular hypoechoic area) and clinical (urine BKPyV DNA load [BKPyV-DNA] plus BK viremia) features was 0.90, with a specificity of 92% (55 of 60 participants). Parenchymal hyperechoic and subcapsular hypoechoic areas were independent factors for differentiating BKPyVAN from transplant rejection. The pooled specificity of subcapsular hypoechoic areas was 96% (21 of 22 participants), with an AUC of 0.67 (95% CI: 0.54, 0.80). For the combination of US (parenchymal echogenicity plus subcapsular hypoechoic area) and clinical (urine BKPyV-DNA plus time since transplant) features, the AUC reached 0.92 and specificity was 82% (18 of 22 participants). Conclusion High-frequency US characteristics are valuable for diagnosing BK polyomavirus-associated nephropathy (BKPyVAN) and distinguishing BKPyVAN from rejection in kidney transplant recipients. © RSNA, 2022 Online supplemental material is available for this article.

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

OBJECTIVES: To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality. METHODS: This was a retrospective study of fetuses at 14-36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. We evaluated the CMA findings according to type of renal ultrasound anomaly and according to whether renal anomalies were isolated or non-isolated. RESULTS: Ten types of renal anomaly were reported on prenatal ultrasound screening, at a mean ± SD gestational age of 24.9 ± 4.8 weeks. The anomalies were diagnosed relatively late in this series, as 64% of cases with an isolated renal anomaly underwent cordocentesis rather than CVS. Fetal pyelectasis was the most common renal ultrasound finding, affecting around one-third (34.32%, 301/877) of fetuses with a renal anomaly, but only 3.65% (n = 11) of these harbored a P/LP CNV (comprising: isolated cases, 2.37% (4/169); non-isolated cases, 5.30% (7/132)). Hyperechogenic kidney was found in 5.47% (n = 48) of fetuses with a renal anomaly, of which 39.58% (n = 19) had a P/LP CNV finding (comprising: isolated cases, 44.44% (16/36); non-isolated cases, 25.00% (3/12)), the highest diagnostic yield among the different types of renal anomaly. Renal agenesis, which accounted for 9.92% (n = 87) of all abnormal renal cases, had a CMA diagnostic yield of 12.64% (n = 11) (comprising: isolated cases, 11.54% (9/78); non-isolated cases, 22.22% (2/9); unilateral cases, 11.39% (9/79); bilateral cases, 25.00% (2/8)), while multicystic dysplastic kidney (n = 110), renal cyst (n = 34), renal dysplasia (n = 27), crossed fused renal ectopia (n = 31), hydronephrosis (n = 98), renal duplication (n = 42) and ectopic kidney (n = 99) had overall diagnostic rates of 11.82%, 11.76%, 7.41%, 6.45%, 6.12%, 4.76% and 3.03%, respectively. Compared with the combined group of CMA-negative fetuses with any other type of renal anomaly, the rate of infant being alive and well at birth was significantly higher in CMA-negative fetuses with isolated fetal pyelectasis or ectopic kidney, whereas the rate was significantly lower in fetuses with isolated renal agenesis, multicystic dysplastic kidney or severe hydronephrosis. The most common pathogenic CNV was 17q12 deletion, which accounted for 30.14% (22/73) of all positive CMA findings, with a rate of 2.51% (22/877) among fetuses with an abnormal renal finding. Fetuses with 17q12 deletion exhibited a wide range of renal phenotypes. Other P/LP CNVs in the recurrent region that were associated with prenatal renal ultrasound abnormalities included 22q11.2, Xp21.1, Xp22.3, 2q13, 16p11.2 and 1q21, which, collectively, accounted for 2.17% (19/877) of the fetuses with prenatal renal anomalies. CONCLUSIONS: In this retrospective review of CMA findings in a large cohort of fetuses with different types of renal ultrasound abnormality, the P/LP CNV detection rate varied significantly (3.03-39.58%) among the different types of kidney anomaly. Our data may help in the decision regarding whether to perform prenatal genetic testing in fetuses with renal ultrasound findings. Specifically, prenatal CMA testing should be performed in cases of hyperechogenic kidney, regardless of whether or not the anomaly is isolated, while it should be performed postnatally rather than prenatally in cases of fetal pyelectasis. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Evaluating the effect of methotrexate on the rate of renal fibrosis by elastography and fibrosis-related gene expression.

Methotrexate is mainly used to treat diseases such as rheumatoid arthritis (RA), but its potential for nephrotoxicity has always been a significant concern on the use of this medication. This study aimed to determine the rate of renal fibrosis using transient elastography and its relationship with cumulative dose and duration of drug use in patients with rheumatoid arthritis treated with methotrexate. TGFß gene expression was also assessed for further evaluation. Patients with rheumatoid arthritis who received methotrexate for more than six months were included. Renal fibrosis was determined by measuring the stiffness of the kidney by elastography (FiberScan Device). RA patients were divided into two groups based on kidney stiffness measurement with and without renal fibrosis, and demographic, clinical, and biochemical parameters were compared to investigate the relationship between cumulative dose and duration of methotrexate treatment and renal fibrosis. Also, in this study, 50 controls (healthy people) and 50 cases (RA patients) were used to evaluate the expression of the TGFß gene by real-time PCR method. The existence of kidney fibrosis was observed in 10 patients. There was no significant relationship between renal fibrosis and the cumulative dose (P = 0.21) and duration of methotrexate (P = 0.30). Multivariate regression analysis showed that the chances of developing renal fibrosis in patients increase with increasing serum ALT levels (P = 0.01). The results of the TGFß gene expression showed that the expression of this gene in the group of RA patients with fibrosis was higher than the control group (healthy people) and the group of RA patients without fibrosis (P <0.01). These results showed that evaluation of renal fibrosis by elastography method is recommended for scanning RA patients while they are being treated with methotrexate, which is also confirmed by the results of the fibrosis-related-gene expression.