OBJECTIVE: To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation. METHODS: The fetuse was found to have multicystic dysplastic kidneys with oligohydramnios upon ultrasonography during the second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Sanger sequencing was used to verify the suspected variants in the family. RESULTS: Antenatal ultrasound examination at 19 weeks showed "polycystic" kidneys with Oligohydramnios. Delivery was by induced labour because of the critically low amniotic fluid volume. Testing of CMA was normal. WES showed a compound heterozygous mutation of c.1817G>A, p.W606X; c.432dupA, p.E145Rfs*18 mutations are novel mutations in this study. CONCLUSION The research may further expand the NPHP3 gene mutation spectrum. Enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation at least include one or two splice site mutation, frameshift mutation or nonsense mutation foetal poor prognosis.
Amniotic Fluid ; Female ; Humans ; Kidney Diseases, Cystic ; Multicystic Dysplastic Kidney/genetics* ; Mutation ; Oligohydramnios/genetics* ; Polycystic Kidney Diseases ; Pregnancy ; Ultrasonography, Prenatal

OBJECTIVES: The results of elastic imaging in evaluating the function and histopathological changes of allogeneic renal transplantation are contradictory, one of the important reasons may be that there are differences in human parameters related to kidney transplantation among individuals. The purpose of this study is to explore the related human body parameters on shear-wave elastography (SWE) effects on quantitative stiffness of graft cortex. METHODS: From March 2021 to November 2021, a total of 63 patients with allogeneic kidney transplantation in the Department of Ultrasonography, Third Xiangya Hospital, Central South University, were selected to collect the parameters of two-dimensional, color Doppler and SWE. The subjects were divided into a <20% group and a 20%-30% group according to the variation of cortical hardness measurement. Mann Whitney U test was used to compare the differences in relevant human parameters, and Spearman rank correlation was used to analyze the correlation between relevant human parameters and cortical hardness of transplanted kidney. RESULTS: There was no significant difference between the 2 groups in age, sex, postoperative time, resistance index of interlobar artery, SCr, blood uric acid, ratio of fat layer to muscle layer, and BMI (all P>0.05). Compared with the <20% group, the patients in the 20%-30% group had smaller cortical hardness of the transplanted kidney, greater total distance between the transplanted kidney and the skin surface, and thicker fat layer or muscle layer in front of the transplanted kidney (all P<0.05). The age of patients, the total distance from the transplanted kidney to the skin surface, the thickness of fat layer and muscle layer, the ratio of fat layer to muscle layer, BMI, and the variation of cortical hardness were significantly negatively correlated with the cortical hardness of the transplanted kidney (all P<0.05). CONCLUSIONS Human parameters relevant to kidney transplantation affect the accuracy of SWE in measuring the cortical hardness of the transplanted kidney. It is very important to obtain the highly stabile elastic measurement value and interpret the elastic measurement results according to different levels of human body related parameters in combination with individual conditions.
Humans ; Kidney Transplantation ; Elasticity Imaging Techniques/methods* ; Kidney ; Ultrasonography/methods* ; Transplantation, Homologous

OBJECTIVE: To carry out genetic analysis for a family with a fetus manifesting bilateral polycystic renal dysplasia and oligohydramnios at 16 gestational week and a previous history for fetal renal anomaly. METHODS: Ultrasound scan was carried out to detect the morphological changes. Following genetic counselling, the parents had decided to terminate the pregnancy. Fetal kidneys were subjected to histological examination. Target capture and next generation sequencing (NGS) was applied to the abortus to detect potential variants. The results were verified by Sanger sequencing. RESULTS: Histological examination of fetal kidneys revealed cystic changes without cortex, medulla or normal renal structure. NGS has identified a heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS gene, which were respectively inherited from the mother and father. CONCLUSION Through NGS and Sanger sequencing, the fetus was diagnosed with type II nephronophthisis (NPHP2). Above result can provide guidance for further pregnancy and enforce understanding of clinical features and genetic etiologies for NPHP.
Female ; Fetus ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Polycystic Kidney, Autosomal Dominant ; diagnostic imaging ; genetics ; Pregnancy ; Sequence Deletion ; genetics ; Transcription Factors ; genetics ; Ultrasonography

ultrasonography are its superiority in detection and visualization of the small blood vessels in tissues, providing radiologists with more information on the vascular structures. Therefore, it has shown particular value in the clinical fields. The aim of this study was to provide microvascular ultrasonographic images for the tissue microvasculature, including the brain, thyroid gland, kidney, urinary bladder, small bowel, ovary, testis, lymph node, and hemangiomas in children, focusing on the comparison with conventional color Doppler ultrasonographic images.]]>
Artifacts ; Blood Vessels ; Brain ; Child ; Female ; Hemangioma ; Humans ; Kidney ; Lymph Nodes ; Microvessels ; Ovary ; Testis ; Thyroid Gland ; Ultrasonography ; Ultrasonography, Doppler, Color ; Urinary Bladder

OBJECTIVE: To compare the outcomes of endoscopic combined ultrasound-guided access (EUGA) with the conventional ultrasound-guided access (UGA) to achieve percutaneous renal access in endoscopic combined intrarenal surgery (ECIRS). METHODS: A retrospective review of 53 patients undergoing ECIRS to treat upper urinary tract calculi between January 2017 and October 2019 was con-ducted. All of the cases were of complex upper urinary tract stones larger than 2 cm in diameter. The com-plex stone situations, such as multiple renal calyces calculi or staghorn calculi necessitated ECIRS. Under general anesthesia, the patients were placed in the galdakao-modified supine valdivia (GMSV) position, thus allowing both antegrade and retrograde accesss. The patients were divided to UGA and EUGA groups according to the protocol of achieving percutaneous renal access. In 28 cases, endoscopic combined ultrasound-guided accesss were obtained. Puncture and dilation were performed under direct flexible ureteroscopic visualization, while percutaneous renal access of 25 cases were performed with the conventional technique employing ultrasound guidance. Demographic and perioperative information, such as stone burden, presence of hydronephrosis and number of calyces involved was compared. Primary outcomes included total operative time, renal access time, repeat puncture, hemoglobin level, perioperative complications, and stone-free rate. RESULTS: No major intra-operative complication was recorded in all the 53 ECRIS. No significant difference was observed between the groups in age and gender. There was no significant difference in body mass index[BMI (29.21±3.14) kg/m² vs.(28.53±2.56) kg/m²], stone burden (37.68±6.89) mm vs. (35.53±6.52) mm, number of calyces involved 2.72±0.68 vs. 2.86±0.71, presence of hydronephrosis (56.0% vs. 46.4%), total operative time (93.0±12.2) min vs. (96.8±14.2) min, hemoglobin level reduction (6.56±2.16) g/L vs. 97.54±2.64) g/L, stone-free rate (92.0% vs. 92.8%), hospital stay (5.52±0.59) d vs. (5.64±0.62) d, perioperative complication rate (8.0% vs. 7.2%). Two patients in EUGA group experienced perioperative complications (one urinary tract infection and one hematuria) while two patients in UGA group experienced perioperative urinary tract infection. None in both groups received blood transfusion. The patients undergoing EUGA had shorter renal access time [(4.0±0.7) min vs. (6.8±2.6) min, P < 0.01] and less repeat puncture (0 vs. 4 cases, P < 0.05). CONCLUSION EUGA is an optimal technique to establish percutaneous renal access in ECIRS, which minimizes access time and repeated procedures.
Humans ; Kidney Calculi ; Nephrostomy, Percutaneous ; Retrospective Studies ; Treatment Outcome ; Ultrasonography, Interventional ; Ureteroscopy

OBJECTIVE: To assess the value of fetal anteroposterior renal pelvic diameter (APD) in predicting antenatal hydronephrosis requiring surgical treatment after birth. METHODS: A total of 525 cases of antenatal hydronephrosis detected by prenatal ultrasonography (ultrasound index APD ≥ 4 mm in the second trimester and APD ≥ 7 mm in the third trimester) in Zhejiang Prenatal Diagnosis Center from June 2007 to June 2018 were retrospectively analyzed. ROC curve was used to analyze the relationship between these ultrasound indicators and the requirement for surgical treatment after birth. RESULTS: There were 162 cases (30.9%) diagnosed in the second trimester and 363 cases (69.1%) diagnosed in the third trimester; 131 cases were diagnosed pathologically after birth, of which 121 finally underwent surgical treatment. The area under ROC curve (AUC) of APD in middle pregnancy for prediction of requiring surgery 1-12 years after birth was 0.910; the cut-off value of APD was 8.45 mm with a sensitivity of 97.1%, specificity of 70.9%, positive predictive value (PPV) of 47.9%, and negative predictive value (NPV) of 98.9%. The AUC of APD in late pregnancy for prediction of requiring surgery 1-12 years after birth was 0.800; the cut-off value of APD was 12.25 mm with a sensitivity of 66.7%, specificity of 81.2%, PPV of 51.7%, and NPV of 89.1%. CONCLUSIONS APD in pregnancy can be used to predict whether the fetus with hydronephrosis needs surgical treatment after birth, and the prediction value of APD in the middle pregnancy is better.
Female ; Fetus ; diagnostic imaging ; Humans ; Hydronephrosis ; diagnostic imaging ; surgery ; Kidney Pelvis ; diagnostic imaging ; Pregnancy ; Retrospective Studies ; Ultrasonography

Chronic kidney disease (CKD) is now recognized as a worldwide public health challenge, and the incidence rate and hospitalization rate have significantly increased in recent years. Without prompt diagnoses and effective treatment in the early renal function damage of CKD, the symptoms will continue to worsen and eventually develop into end-stage renal disease. Functional imaging techniques such as single photon emission computed tomography (SPECT), contrast-enhanced ultrasound (CEUS), computerized tomography perfusion (CTP), and magnetic resonance perfusion weighted imaging (MR-PWI) could be used to quantitatively analyze renal perfusion and renal filtration function. Their diagnostic values are increasingly evident and have become the research hotspot in evaluating renal function. The aim of this review is to briefly evaluate the research and application advances in the early renal function damage assessment of CKD, so as to raise the efficiency of clinical applications.
Humans ; Kidney ; diagnostic imaging ; Renal Insufficiency, Chronic ; diagnostic imaging ; Tomography, Emission-Computed, Single-Photon ; Tomography, X-Ray Computed ; Ultrasonography

This paper explored the feasibility of using ultrasonic Nakagami statistic parameter imaging to evaluate the thermal lesion induced by microwave ablation (MWA) in porcine models. In this paper, thermal lesions were induced in livers and kidneys in 5 swines using a clinical MWA system. During this treatment progress, ultrasonic radiofrequency (RF) data were collected. The dynamic changes of Nakagami parameter in the thermal lesion were calculated, and the ultrasonic B-mode images and Nakagami images were reconstructed simultaneously. The contrast-to-noise ratio (CNR) between the thermal lesion and the surrounding normal tissue was calculated over the MWA procedure. After MWA, a bright hyperechoic region appeared in the ultrasonic Nakagami image as an indicator of the thermal lesion and this bright spot enlarged with lesion development during MWA exposure. The mean value of Nakagami parameter in the liver and kidney increased from 0.78 and 0.79 before treatment to 0.91 and 0.92 after treatment, respectively. During MWA exposure, the mean values of CNR calculated from the Nakagami parameter increased from 0.49 to 1.13 in the porcine liver and increased from 0.51 to 0.85 in the kidney, which were both higher than those calculated from the B-mode images. This study on porcine models suggested that the ultrasonic Nakagami imaging may provide an alternative modality for monitoring MWA treatment.
Animals ; Kidney ; diagnostic imaging ; Liver ; diagnostic imaging ; Microwaves ; Radio Waves ; Radiofrequency Ablation ; Swine ; Ultrasonography

Kidney tumor is one of the diseases threatening human health. Ultrasound is widely applied in kidney tumor diagnosis due to its high popularization, low price and no radiation. Accurate segmentation of kidney tumor is the basis of precise treatment. Kidney tumors often grow in the middle of cortex, so that segmentation is easy disturbed by nearby organs. Besides, ultrasound images own low contrast and large speckle, leading to difficult segmentation. This paper proposed a novel kidney tumor segmentation method in ultrasound images using adaptive sub-regional evolution level set models (ASLSM). Regions of interest are firstly divided into subareas. Secondly, object function is designed by integrating inside and outside energy and gradient, in which the ratio of these two parts are adjusted adaptively. Thirdly, ASLSM adapts convolution radius and curvature according to centroid principle and similarity inside and outside zero level set. Hausdorff distance (HD) of (8.75 ± 4.21) mm, mean absolute distance (MAD) of (3.26 ± 1.69) mm, dice-coefficient (DICE) of 0.93 ± 0.03 were obtained in the experiment. Compared with traditional ultrasound segmentation method, ASLSM is more accurate in kidney tumor segmentation. ASLSM may offer convenience for doctor to locate and diagnose kidney tumor in the future.
Algorithms ; Fetal Growth Retardation ; Humans ; Image Processing, Computer-Assisted ; Kidney Neoplasms ; Osteochondrodysplasias ; Ultrasonography

Recent data suggest that subclinical atherosclerosis is more related to visceral adipose tissue distribution than to overall fat mass. Both perirenal fat and epicardial fat are visceral fat depots surrounding the kidneys and the myocardium, respectively, which can be easily assessed by ultrasound. Their clinical relevance in children is largely unknown. This review describes studies relating perirenal and epicardial fat to cardiovascular disease or carotid intima-media thickness (cIMT), a well-established surrogate for subclinical atherosclerosis, and discusses this in context with our own data from children. In adults, both perirenal and epicardial fat are useful biological markers of visceral obesity. The former has been related to hypertension in overweight subjects and with atherosclerosis in patients with human immunodeficiency virus. The latter was associated with several metabolic syndrome components and with calcification of the carotid artery. In healthy prepubertal children, both epicardial and perirenal fat thickness, rather than total body fat mass, were related to cIMT. Ultrasonography measures of perirenal and epicardial fat are related to atherosclerosis in adults and may be convenient tools for the assessment of cardiometabolic risk in children.
Adipose Tissue ; Adult ; Atherosclerosis ; Biomarkers ; Body Fat Distribution ; Cardiovascular Diseases ; Carotid Arteries ; Carotid Intima-Media Thickness ; Child ; HIV ; Humans ; Hypertension ; Intra-Abdominal Fat ; Kidney ; Myocardium ; Obesity, Abdominal ; Overweight ; Ultrasonography