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Ran Nagar, Sharon Perlman, Or Yariv, Zvi Kivilevich, Benjamin Dekel, Reuven Achiron, Yinon Gilboa
BACKGROUND: Sonographic assessment of the fetal kidneys is an integral part of the prenatal anatomical survey. OBJECTIVES: To evaluate the fetal renal to abdominal (RTA) ratio throughout pregnancy and to investigate whether this ratio can be a potential diagnostic landmark for congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Measurements of the anterior-posterior diameters of the fetal kidney and fetal abdomen (APAD) were obtained prospectively...
March 2018: Israel Medical Association Journal: IMAJ
Herui Wang, Chi Zhang, Xiaowen Wang, Yaru Lian, Bin Guo, Miao Han, Xiaoe Zhang, Xiaoting Zhu, Sixian Xu, Zengli Guo, Yunli Bi, Qian Shen, Xiang Wang, Jiaojiao Liu, Yuan Zhuang, Ting Ni, Hong Xu, Xiaohui Wu
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci ( HNF1B , PAX2 , EYA1 , etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene Gen1 leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. GEN1 interacts with SIX1 and enhances the transcriptional activity of SIX1/EYA1, a key regulatory complex of the GDNF morphogen...
2018: International Journal of Biological Sciences
Yasmine Neirijnck, Antoine Reginensi, Kirsten Y Renkema, Filippo Massa, Vladimir M Kozlov, Haroun Dhib, Ernie Mhf Bongers, Wout F Feitz, Albertien M van Eerde, Veronique Lefebvre, Nine Vam Knoers, Mansoureh Tabatabaei, Herbert Schulz, Helen McNeill, Franz Schaefer, Michael Wegner, Elisabeth Sock, Andreas Schedl
Congenital abnormalities of the kidney and the urinary tract (CAKUT) belong to the most common birth defects in human, but the molecular basis for the majority of CAKUT patients remains unknown. Here we show that the transcription factor SOX11 is a crucial regulator of kidney development. SOX11 is expressed in both mesenchymal and epithelial components of the early kidney anlagen. Deletion of Sox11 in mice causes an extension of the domain expressing Gdnf within rostral regions of the nephrogenic cord and results in duplex kidney formation...
February 16, 2018: Kidney International
Meade Haller, Jason Au, Marisol O'Neill, Dolores J Lamb
Genitourinary (GU) birth defects are among the most common yet least studied congenital malformations. Congenital anomalies of the kidney and urinary tract (CAKUTs) have high morbidity and mortality rates and account for ∼30% of structural birth defects. Copy number variation (CNV) mapping revealed that 16p11.2 is a hotspot for GU development. The only gene covered collectively by all of the mapped GU-patient CNVs was MYC-associated zinc finger transcription factor (MAZ), and MAZ CNV frequency is enriched in nonsyndromic GU-abnormal patients...
February 5, 2018: Proceedings of the National Academy of Sciences of the United States of America
Lyuba Dineva Miteva, Emilya Stambolova Kostadinova, Spaska Angelova Stanilova
AIM: The aim of the study was to investigate whether the functional IL10-1082A/G polymorphism exert a role in congenital anomalies of the kidney and urinary tract (CAKUT) in children. Also, the serum IL-10 and its association with genotype and renal parenchymal damage in CAKUT were explored. METHODS: In current case-control study, 134 paediatric cases of CAKUT and 382 unrelated controls were included. The genotyping of IL10-1082A/G polymorphism was performed by amplification refractory mutation system-PCR and IL-10 serum level was determined by ELISA...
January 30, 2018: Nephrology
Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes. To identify additional monogenic causes of CAKUT, we performed whole exome sequencing (WES) and homozygosity mapping (HM) in a patient with CAKUT from Indian origin and consanguineous descent. We identified a homozygous missense mutation (c...
2018: PloS One
Masato Hoshi, Antoine Reginensi, Matthew S Joens, James A J Fitzpatrick, Helen McNeill, Sanjay Jain
The epithelial Wolffian duct (WD) inserts into the cloaca (primitive bladder) before metanephric kidney development, thereby establishing the initial plumbing for eventual joining of the ureters and bladder. Defects in this process cause common anomalies in the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). However, developmental, cellular, and molecular mechanisms of WD-cloaca fusion are poorly understood. Through systematic analysis of early WD tip development in mice, we discovered that a novel process of spatiotemporally regulated apoptosis in WD and cloaca was necessary for WD-cloaca fusion...
January 11, 2018: Journal of the American Society of Nephrology: JASN
Sharon Perlman, Lucia Roitman, Danny Lotan, Zvi Kivilevitch, Benjamin Dekel, Naomi Pode-Shakked, Ben Pode-Shakked, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To focus on fetuses diagnosed with severe hydronephrosis and correlate pre-natal sonographic characteristics with post-natal outcome. METHODS: Cases presenting prenatally with severe hydronephrosis (APRPD) >15 mm) were collected retrospectively over a period of 11 years and divided into two groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT). RESULTS: 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT...
January 5, 2018: Prenatal Diagnosis
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations. Materials and methods: Here, we report on a 14-year-old male patient with congenital bilateral dysplastic kidneys, cryptorchidism, hypoplastic clavicles, developmental delay, impaired intelligence, and minor dysmorphic features...
2017: Frontiers in Pediatrics
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
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
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
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
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...
January 2018: Journal of the American Society of Nephrology: JASN
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
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
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
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
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
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
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