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https://www.readbyqxmd.com/read/29161808/renal-outcome-of-congenital-anomalies-of-the-kidney-and-urinary-tract-system-a-singe-center-retrospective-study
#1
Rahime Renda
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) have been defined in 20 to 50% of all fetal anomalies. The aim of this study was to determine the demographic and clinical characteristics of such patients, as well as to describe the outcome and risk factors that affect the prognosis. METHODS: The analysis investigated retrospective data from 303 patients diagnosed with CAKUT between January 2015 and April 2017. Demographic data, clinical history, diagnosis, investigations, disease outcomes, and treatment procedures were evaluated...
November 21, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/29143935/a-propensity-matched-comparison-of-hard-outcomes-in-children-on-chronic-dialysis
#2
Enrico Vidal, Nicholas C Chesnaye, Fabio Paglialonga, Bruno Minale, Giovanna Leozappa, Mario Giordano, Bruno Gianoglio, Ciro Corrado, Rosa Maria Roperto, Roberto Chimenz, Francesca Mencarelli, Ilse-Maria Ratsch, Luisa Murer, Enrico Verrina
Data concerning outcomes of children on hemodialysis (HD) and peritoneal dialysis (PD) are scarce and frequently derived from single-center experiences. We sought to compare survival and transplantation rates in a large cohort of PD and HD patients. We extracted all patients initiating dialysis under 16 years of age between 2004 and 2013 from the Italian Registry of Pediatric Chronic Dialysis. Patients on PD were propensity-matched to those on HD based on gender, age, primary cause of ESRD, and the number of co-morbidities...
November 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29100091/mutations-in-greb1l-cause-bilateral-kidney-agenesis-in-humans-and-mice
#3
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29079659/novel-insights-into-the-pathogenesis-of-monogenic-congenital-anomalies-of-the-kidney-and-urinary-tract
#4
Amelie T van der Ven, Asaf Vivante, Friedhelm Hildebrandt
Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients...
October 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28982546/what-did-we-find-from-imaging-studies-in-childhood-uti-and-which-studies-are-mandatory
#5
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/28939448/-solitary-kidney-management-and-outcome
#6
A Godron-Dubrasquet, C Didailler, J Harambat, B Llanas
Solitary functioning kidneys form an important subgroup of congenital anomalies of the kidney and urinary tract (CAKUT). A solitary kidney can be congenital or acquired after unilateral nephrectomy and is often associated with ipsilateral urogenital anomalies. Both types of solitary functioning kidney are associated with an increased risk of chronic kidney disease (CKD). A low functional nephron number results in compensatory glomerular hypertension and enlargement of remnant nephrons, indicating glomerular hyperfiltration...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28928250/coexistent-duplication-of-urethra-and-a-refluxing-ectopic-ureter-presenting-as-recurrent-epididymo-orchitis-in-a-child
#7
Ferzine Mohamed, Susan Jehangir
Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3-6 per 1000 live births, accounting for most cases of paediatric end-stage kidney disease.(1) However, the molecular basis of CAKUT and anomalies of the external genitalia is poorly understood. We, herein, describe a case with left recurrent epididymo-orchitis with a coexistent urethral duplication and an ectopic ureter with an ipsilateral non-functioning kidney, which is, to the best of our knowledge, the first reported case of its kind...
September 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28893484/-renal-abnormalities-in-down-syndrome-a-review
#8
C Niamien-Attai, J Bacchetta, B Ranchin, D Sanlaville, P Cochat
Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28878612/whole-exome-sequencing-reveals-fat4-mutations-in-a-clinically-unrecognizable-patient-with-syndromic-cakut-a-case-report
#9
Amelie T van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Kristen M Laricchia, Monkol Lek, Velibor Tasic, Friedhelm Hildebrandt
We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28797033/a-shh-foxf1-bmp4-signaling-axis-regulating-growth-and-differentiation-of-epithelial-and-mesenchymal-tissues-in-ureter-development
#10
Tobias Bohnenpoll, Anna B Wittern, Tamrat M Mamo, Anna-Carina Weiss, Carsten Rudat, Marc-Jens Kleppa, Karin Schuster-Gossler, Irina Wojahn, Timo H-W Lüdtke, Mark-Oliver Trowe, Andreas Kispert
The differentiated cell types of the epithelial and mesenchymal tissue compartments of the mature ureter of the mouse arise in a precise temporal and spatial sequence from uncommitted precursor cells of the distal ureteric bud epithelium and its surrounding mesenchyme. Previous genetic efforts identified a member of the Hedgehog (HH) family of secreted proteins, Sonic hedgehog (SHH) as a crucial epithelial signal for growth and differentiation of the ureteric mesenchyme. Here, we used conditional loss- and gain-of-function experiments of the unique HH signal transducer Smoothened (SMO) to further characterize the cellular functions and unravel the effector genes of HH signaling in ureter development...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28739660/a-gene-implicated-in-activation-of-retinoic-acid-receptor-targets-is-a-novel-renal-agenesis-gene-in-humans
#11
Patrick D Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W Darbro, Xiaojing Hong, Jason C Clarke, Kevin A Peterson, James Denegre, Michael Schneider, Caroline R Sussman, Lone Sunde, Dorte L Lildballe, Jens Michael Hertz, Robert A Cornell, Stephen A Murray, J Robert Manak
Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease. Genetic investigations have identified several gene variants that cause RA, including EYA1, LHX1, and WT1 However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans...
September 2017: Genetics
https://www.readbyqxmd.com/read/28724605/heterozygous-loss-of-function-mutation-in-odd-skipped-related-1-osr1-is-associated-with-vesico-ureteric-reflux-duplex-systems-and-hydronephrosis
#12
Marie-Lyne Fillion, Jasmine El Andalousi, Fatima Tokhmafshan, Vasikar Murugapoopathy, Christine L Watt, Inga J Murawski, John-Paul Capolicchio, Mohamed El-Sherbiny, Roman Jednak, Indra Rani Gupta
Osr1 is a transcriptional repressor that plays critical roles in maintaining the mesenchymal stem cell population within the developing kidney. Here, we report that newborn pups with a heterozygous null mutation in Osr1 exhibit a 21% incidence of vesico-ureteric reflux and have hydronephrosis and urinary tract duplications. Newborn pups have a short intravesical ureter resulting in a less competent uretero-vesical junction which arises from a delay in urinary tract development. We describe a new domain of Osr1 expression in the ureteral mesenchyme and within the developing bladder in the mouse...
July 19, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#13
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
September 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28711960/chronic-kidney-disease-ckd-an-observational-study-of-etiology-severity-and-burden-of-comorbidities
#14
Nivedita Kamath, Arpana Aprameya Iyengar
OBJECTIVES: To study the etiology and burden of comorbidities across stages of chronic kidney disease (CKD). METHODS: Children, 2-16 y of age with CKD Stages II- IV were recruited over 12 mo. The etiology, clinical presentation and severity of complications were studied. RESULTS: Among 78 children [Stage II (n = 21), Stage III (n = 26), Stage IV (n = 31)], congenital anomalies of the kidney and urinary tract (CAKUT) was the commonest etiology and 28 were newly diagnosed in Stage III /IV...
November 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28681080/association-between-cord-blood-cystatin-c-levels-and-early-mortality-of-neonates-with-congenital-abnormalities-of-the-kidney-and-urinary-tract-a-single-center-retrospective-cohort-study
#15
Seiichi Tomotaki, Katsuaki Toyoshima, Tomoyuki Shimokaze, Jun Shibasaki, Hiroyuki Nagafuchi
BACKGROUND: Some fetuses with congenital abnormalities of the kidney and urinary tract (CAKUT) have severe renal dysfunction during the prenatal period that can result in oligohydramnios, pulmonary hypoplasia, and death following birth. We hypothesized that cord blood cystatin C (CysC) levels are elevated in neonates who have life-threatening pulmonary hypoplasia and oligohydramnios due to severe renal dysfunction. In this study we compared cord blood CysC levels between a non-survivor group with CAKUT and a survivor group...
November 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28612055/genetics-of-vesicoureteral-reflux-and-congenital-anomalies-of-the-kidney-and-urinary-tract
#16
REVIEW
Keum Hwa Lee, Heon Yung Gee, Jae Il Shin
The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies can cause pediatric chronic kidney disease. However, the pathogenesis of CAKUT is not well understood, because identifying the genetic architecture of CAKUT is difficult due to the phenotypic heterogeneity and multifactorial genetic penetrance. We describe the current genetic basis and mechanisms of CAKUT including VUR via approaching the steps and signaling pathways of kidney developmental processes...
June 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28603880/a-convex-hull-based-new-metric-for-quantification-of-bladder-wall-irregularity-in-pediatric-patients-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#17
Joseph N Stember, Jeffrey Newhouse, Gerald Behr, Shumyle Alam
OBJECTIVES: Early identification and quantification of bladder damage in pediatric patients with congenital anomalies of the kidney and urinary tract (CAKUT) is crucial to guiding effective treatment and may affect the eventual clinical outcome, including progression of renal disease. We have developed a novel approach based on the convex hull to calculate bladder wall trabecularity in pediatric patients with CAKUT. The objective of this study was to test whether our approach can accurately predict bladder wall irregularity...
June 12, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28593895/congenital-anomalies-of-the-kidney-and-urinary-tract-in-children-born-small-for-gestational-age
#18
Aleksandra Janchevska, Zoran Gucev, L Tasevska-Rmus, Velibor Tasic
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) represent several types of malformations with occurrence of 1 in about 500 live births. OBJECTIVE: Small for gestation age (SGA) may influence in prevalence of CAKUT and progression of chronic kidney disease (CKD) in children. The aim of this study was to elaborate our experiences with detected CAKUT in a cohort of SGA born children in Macedonia. METHODS: Our cohort consisted of 100 SGA born children investigated for associated congenital anomalies of urinary tract...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28593894/5th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-15th-2016
#19
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The fifth SEE meeting on rare diseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA) the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or the lack of it) on the brain, and further prospects of eventual gene treatment were comprehensively exposed and discussed. Special accent was on Gaucher, Morquio IVA, Hunter and the audience was given new knowledge on the complexities of diagnosis and treatment...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28593883/congenital-anomalies-of-the-kidney-and-urinary-tract-cakut
#20
Nadica Ristoska-Bojkovska
Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1.000 of the newborns, or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrum, including renal anomalies, and anomalies of the bladder and urethra. The study was retrospective-prospective which means that it included newly diagnosed patients suffering from CAKUT, as well as those patients with already diagnosed and well defined CAKUT on the basis of imaging studies which have been processed according to the protocol for this study...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
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