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Congenital hydronephrosis

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https://www.readbyqxmd.com/read/29028084/expression-and-clinical-significance-of-aquaporin-1-and-et-1-in-urine-of-children-with-congenital-hydronephrosis
#1
Y Yu, Y-F Kang, K-S Li, Z-H Chen, L Zhang, H-M Zhang, M Zhang
OBJECTIVE: Congenital hydronephrosis is induced by congenital obstruction of uretero pelvic junction, bladder vesicoureteral reflux, posterior urethral valve, stricture of ureter end and ureterocyst, which is extremely apt to cause end-stage renal failure in children. It becomes significant to explore the expression profile and clinical significance of aquaporin-1 (AQP-1) and ET-1 (endothelin-1) in the urine of children with congenital hydronephrosis. PATIENTS AND METHODS: 80 cases of children with congenital hydronephrosis were selected to be the observation group and another 40 cases of children with other diseases were served as control group...
September 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28982546/what-did-we-find-from-imaging-studies-in-childhood-uti-and-which-studies-are-mandatory
#2
Prayong Vachvanichsanong, Pornsak Dissaneewate, Edward McNeil
OBJECTIVE: To evaluate the imaging results of childhood UTI in our setting, and examine if it would be appropriate to apply the recent guideline changes regarding imaging studies as routine practice in Thailand. METHODS: Medical records of UTI children aged 0-15 years were reviewed, with focus on renal ultrasound (RUS), cystogram and (99mTc)dimercaptosuccinic acid (DMSA) renal scan results to determine congenital anomalies of the kidney and urinary tract (CAKUT) and renal damage...
October 2, 2017: Urology
https://www.readbyqxmd.com/read/28931028/the-efficacy-of-extracorporeal-shockwave-lithotripsy-for-symptomatic-ureteral-stones-predictors-of-treatment-failure-without-the-assistance-of-computed-tomography
#3
Bing-Juin Chiang, Chun-Hou Liao, Yu-Hua Lin
OBJECTIVES: Non-contrast computed tomography (NCCT) is not always performed clinically if the diagnosis of ureteral calculi has been confirmed using other radiographic imaging modalities. The aim of this study was to identify predictors of successful extracorporeal shockwave lithotripsy (ESWL) without assistance of NCCT. METHODS: We retrospectively reviewed the medical records of patients with symptomatic solitary ureteral stones who underwent ESWL between November 2015 and January 2016...
2017: PloS One
https://www.readbyqxmd.com/read/28927720/neuronal-defects-an-etiological-factor-in-congenital-pelviureteric-junction-obstruction
#4
Guo Yuan How, Kenneth Tou En Chang, Anette Sundfor Jacobsen, Te-Lu Yap, Caroline Choo Phaik Ong, Yee Low, John Carson Allen, Chik Hong Kuick, Malcolm Zhun Leong Lim, Narasimhan Kannan Laksmi
INTRODUCTION: Congenital pelviureteric junction obstruction (PUJO) is one of the most frequent causes of neonatal hydronephrosis. Obstruction at the PUJ has potential severe adverse outcomes, such as renal damage. While pyeloplasty has been established as the definitive treatment, the exact pathophysiology of congenital PUJO remains unknown. Recent research has proposed neuronal innervation defects as an etiological factor in congenital PUJO. We aim to study the expression of various neuronal markers in PUJO specimens compared with controls, and evaluate whether severity of renal disease or dysfunction pre-operatively is related to expression of neuronal markers in resected PUJO specimens...
September 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#5
Lorenzo Biassoni, Marina Easty
Background: Nuclear medicine imaging explores tissue viability and function by using radiotracers that are taken up at cellular level with different mechanism. This imaging technique can also be used to assess blood flow and transit through tubular organs. Nuclear medicine imaging has been used in paediatrics for decades and this field is continuously evolving. Sources of data: The data presented comes from clinical experience and some milestone papers on the subject...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28902181/platelet-derived-growth-factor-receptor-alpha-positive-cells-a-new-cell-type-in-the-human-ureteropelvic-junction
#6
Manuela Hunziker, Anne-Marie O'Donnell, Prem Puri
BACKGROUND: Ureteropelvic junction (UPJ) obstruction is the most common cause of congenital hydronephrosis. Normal ureteral motility requires coordinated interaction between neurons, smooth muscle cells (SMCs), and interstitial Cajal-like cells (IC-LCs). Recently, a new type of interstitial cell, platelet-derived growth factor receptor α-positive (PDGFRα(+)) cells, was discovered in the gastrointestinal tract and bladder.MethodsWe used immunohistochemistry to study PDGFRα protein distribution in normal human UPJ and congenital UPJ obstruction...
September 13, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#7
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28747615/isolated-congenital-megacystis-with-spontaneous-resolution-a-case-report
#8
Toshihiko Nakamura
The patient was a male infant with an antenatal diagnosis of huge intraabdominal mass. Prenatal ultrasound at 35 weeks gestation revealed a markedly enlarged cystic mass in the lower abdomen. After birth at 38 weeks, the infant was allowed to void spontaneously and passed meconium. Ultrasonography showed an enlarged bladder with wall thickness of 2.9 mm and no hydronephrosis. Voiding cystourethrograms showed no evidence of vesicoureteral reflex and posterior urethral valve. The post-void residuals were 15 mL at 11 days of life, 5 mL at 1 month and 0 mL at 5 months...
August 9, 2017: Fukushima Journal of Medical Science
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#9
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28505705/crossed-ectopic-kidney-prenatal-diagnosis-and-postnatal-follow-up
#10
Michal Zajicek, Sharon Perlman, Benjamin Dekel, Einat Lahav, Danny Lotan, Dor Lotan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: The objective of this study is to investigate prenatal diagnosis and postnatal outcome of fetuses with crossed ectopic kidney. METHOD: Cases referred for an empty renal fossa and diagnosed with crossed ectopic kidney confirmed postnatally were analyzed retrospectively over a period of 10 years. Prenatal diagnosis was established following the detection of one kidney in a normal position and a second ipsilateral kidney fed by abnormal blood vessels on Doppler flow RESULTS: Between 2005 and 2015, 185 fetuses were referred for an empty renal fossa...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28469780/the-relationship-between-amniotic-fluid-mirnas-and-congenital-obstructive-nephropathy
#11
Juntao Xie, Yi Zhou, Wenzong Gao, Zuoqing Li, Zhe Xu, Li Zhou
Exosomes are small membrane vesicles with size of 30-100 nm, which were found in bodily fluids including amniotic fluid and saliva. The biological materials in exosomes, such as proteins and RNA, can be used as novel potential biomarkers for diagnostic assays. The purpose of this study was to assess whether exosomal microRNAs (miRNAs) could be used as biomarkers to prenatally diagnose congenital hydronephrosis and to evaluate fetal kidney function. Transmission electron microscopy (TEM), flow cytometry (FACS), and western-blot were applied to identify exosomes in the amniotic fluid from fetuses with congenital hydronephrosis and healthy controls...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28417852/nuclear-medicine-in-pediatric-nephro-urology-an-overview
#12
REVIEW
Iosif Mendichovszky, Bernardita Troncoso Solar, Naima Smeulders, Marina Easty, Lorenzo Biassoni
In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful...
May 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#13
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
May 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28292896/loss-of-lmod1-impairs-smooth-muscle-cytocontractility-and-causes-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-in-humans-and-mice
#14
Danny Halim, Michael P Wilson, Daniel Oliver, Erwin Brosens, Joke B G M Verheij, Yu Han, Vivek Nanda, Qing Lyu, Michael Doukas, Hans Stoop, Rutger W W Brouwer, Wilfred F J van IJcken, Orazio J Slivano, Alan J Burns, Christine K Christie, Karen L de Mesy Bentley, Alice S Brooks, Dick Tibboel, Suowen Xu, Zheng Gen Jin, Tono Djuwantono, Wei Yan, Maria M Alves, Robert M W Hofstra, Joseph M Miano
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of the disease also exists. Using combined homozygosity mapping and whole exome sequencing, a genetically isolated family was found to carry a premature termination codon in Leiomodin1 (LMOD1), a gene preferentially expressed in vascular and visceral smooth muscle cells...
March 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28248022/-laparoscopic-pyeloplasty-for-hydronephrosis-of-horseshoe-kidney
#15
B G Guliev
AIM: Horseshoe kidney is often associated with other congenital abnormalities and obstruction of pyeloureteral segment (PUS). The aim of our study was to evaluate the results of laparoscopic pyeloplasty (LP) in patients with hydronephrosis of horseshoe kidney. MATERIALS AND METHODS: From February 2010 to March 2016, 130 patients underwent LP. Ten (7.7%) of them (6 men and 4 women) had a hydronephrosis of horseshoe kidney. Left and right PUS obstruction were diagnosed in 6 and 4 patients, respectively...
November 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28161315/renal-development-in-the-fetus-and-premature-infant
#16
REVIEW
Stacy Rosenblum, Abhijeet Pal, Kimberly Reidy
Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT are a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Prenatal imaging is useful to identify CAKUT, but will not detect all defects. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development...
April 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28050077/retrocaval-ureter-or-preureteral-vena-cava-lest-we-forget-this-rare-cause-of-hydronephrosis
#17
Saikat Bhattacharjee, Sunil Sanga, Pooja Gupta, R A George
Retrocaval ureter or circumcaval ureter is a rare congenital abnormality arising from dysgenesis of the inferior vena cava (IVC) that results in the right ureter coursing behind and medial to the IVC. The ideal nomenclature for the anomaly is preureteral vena cava, keeping in mind the aberrant embryology. It can result in hydronephrosis and is a rare cause of long-standing cyclical pain abdomen. Ultrasound, intravenous urography, nuclear scintigraphy, computed tomography urography (CTU) and magnetic resonance urography (MRU) have been used in the diagnosis of this abnormality but CTU, with its ability to depict the abnormality in three dimensions gives the most "wholesome" solution to its diagnosis...
December 2016: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/27993715/appearance-of-pyelitis-emphysematosa-on-computed-tomography
#18
Todd S Yecies, Brian T Kadow, Stephen V Jackman
Pyelitis emphysematosa is a gas-forming infection characterized by gas located within the wall of the collecting system and renal pelvis. There are only 2 reported cases of pyelitis emphysematosa in the literature, neither of which occurred in the era of cross-sectional imaging. Here we present a case of pyelitis emphysematosa occurring in an elderly female with congenital left renal atrophy and chronic right hydronephrosis secondary to ureteropelvic junction obstruction.
December 16, 2016: Urology
https://www.readbyqxmd.com/read/27939966/prediction-of-clinical-outcomes-in-prenatal-hydronephrosis-importance-of-gravity-assisted-drainage
#19
Rachael D Sussman, Emily S Blum, Bruce M Sprague, Massoud Majd, H Gil Rushton, Hans G Pohl
PURPOSE: In infants with SFU (Society for Fetal Urology) grade 3-4 congenital hydronephrosis, (99m)Tc-mercaptoacetyltriglycine diuretic renography assesses differential function and drainage half-time. We routinely also include the percent of radiotracer drained after 30 minutes of diuresis as well as after 15 minutes with the patient in the upright position. We investigated whether any 1 or more of these parameters on initial diuretic renography predicts persistent or worsening drainage parameters...
March 2017: Journal of Urology
https://www.readbyqxmd.com/read/27926352/3d-laparoscopy-in-neonates-and-infants
#20
Yury Kozlov, Konstantin Kovalkov, Vladimir Nowogilov
BACKGROUND: This study focuses on the successful application of three-dimensional (3D) laparoscopic surgeries in the treatment of congenital anomalies and acquired diseases in the young pediatric population. The purpose of this scientific work consists in highlighting the spectrum, indications, applicability, and effectiveness of 3D endosurgery in children. METHODS: Our experience is based on 110 endosurgical procedures performed in neonates and infants in the 3D format between January 2014 and May 2015...
December 2016: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
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