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JOURNAL ARTICLE
Daisuke Watanabe, Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Fuyuki Miya, Kenjiro Kosaki
Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies...
February 8, 2024: Pediatric Nephrology
#22
REVIEW
Marios Marcou, Hendrik Apel, Bernd Wullich, Karin Hirsch-Koch
BACKGROUND: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of end-stage renal disease (ESRD) in children. Approximately one third of children with CAKUT have lower urinary tract dysfunction (LUTD). AIM: This article highlights the important aspects that need to be considered in kidney transplantation of children with complex urogenital malformations. MATERIALS AND METHODS: The paper reviews the existing literature regarding the evaluation, preparation, perioperative management, and follow-up of children with complex urogenital malformations and ESRD undergoing renal transplantation...
February 7, 2024: Urologie
#23
Lihong Fan, Guosong Shen, Mingsong Liu, Yufei Liang, Juan Yao, Zhongying Ding, Zhi Li, Xiangping Feng, Jinghui Zhang, Xueping Shen
Renal agenesis (RA) represents the most severe form of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is almost invariably fatal at birth and has high genetic heterogeneity. Here we report on a Chinese family with two pregnancies affected by a prenatal form of BRA. Trio-WES was conducted to explore the underlying genetic cause and identified a novel nonsense variant (c.2621G>A: p. Trp874Ter) in the GREB1L gene. Based on previous research, pathogenic mutations in GREB1L can cause renal hypodysplasia/aplasia-3 (RHDA3) with autosomal dominant inheritance...
February 1, 2024: Urology
#24
Takaaki Mori, Osamu Nomura, Naoaki Mikami, Hiroshi Hataya
As the interest in point-of-care ultrasound (POCUS) for investigating pediatric abdominal emergencies has been growing, an increasing number of literatures about abdominal POCUS has been published. We describe a noteworthy instance of a systematic approach using abdominal POCUS for detecting unilateral renal agenesis (URA) in previously healthy children with suspected intussusception. A previously healthy three-year-old girl was brought to our emergency department (ED) due to abdominal pain and bloody diarrhea...
January 2024: Curēus
#25
JOURNAL ARTICLE
Alessandro Calisti, Diaaeldinn Yaseen Salman, Kibreab Belay, Andrea Mombo, Boniphace Tresphory, Giovanni Giuliani, Martina Sertori, Gian Battista Parigi
Specialist facilities for children are still unavailable in some Sub-Saharan African contexts. It is the case of pediatric urology, whose recent advances are still largely unshared. Prenatal diagnosis of urinary abnormalities (CAKUT) is largely unknown. Early recognition and referral of Undescended testis (UDT), Hypospadia, bladder exstrophy epispadias complex, ambiguous genitalia, stone disease, and tumours are uncommon in rural areas. Missed diagnosis is not uncommon and delayed management is associated with poor outcomes...
January 23, 2024: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
#26
JOURNAL ARTICLE
XiaoQi Xuan, Xiao Pu, Yue Yang, JinLong Yang, YongLe Li, Hang Wu, JianGuo Xu
Congenital anomalies of the kidney and urinary tract (CAKUT) are primarily causal for end-stage renal disease and have significant implications for long-term survival. A total of 39 healthy controls and 94 children with chronic kidney disease (CKD) were enrolled (3-12 years old as children, 13-18 years old as adolescents), who were divided into CAKUT and Non-CAKUT according to the etiology of CKD. CKD group was further classified according to estimating glomerular filtration rate (eGFR). Circulating levels of inflammatory markers such as interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), monocyte chemokine-1 (MCP-1), and transforming growth factor-β1 (TGF-β1) were analyzed...
January 20, 2024: Applied Biochemistry and Biotechnology
#27
JOURNAL ARTICLE
Marios Marcou, Matthias Galiano, Anja Tzschoppe, Katja Sauerstein, Sven Wach, Helge Taubert, Bernd Wullich, Karin Hirsch-Koch, Hendrik Apel
BACKGROUND: Congenital anomalies of the kidneys and urinary tract (CAKUTs) are one of the most prevalent primary causes of end-stage renal disease (ESRD) in young children, and approximately one-third of these children present with lower urinary tract dysfunction (LUTD). Many children with LUTD require therapy with clean intermittent catheterization (CIC). CIC commonly leads to bacteriuria, and considerations have arisen regarding whether CIC in immunosuppressed children is safe or whether repeated febrile urinary tract infections (UTIs) may lead to the deterioration of kidney graft function...
December 20, 2023: Journal of Clinical Medicine
#28
JOURNAL ARTICLE
Laura Walawender, Natasha Santhanam, Benjamin Davies, Y Frances Fei, Daryl McLeod, Brian Becknell
BACKGROUND: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. METHODS: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review...
January 10, 2024: Pediatric Nephrology
#29
JOURNAL ARTICLE
Marcin Kołbuc, Mateusz F Kołek, Rafał Motyka, Beata Bieniaś, Sandra Habbig, Kathrin Burgmaier, Larisa Prikhodina, Svetlana Papizh, Velibor Tasic, Christine Okorn, Maria Szczepańska, Katarzyna Kiliś-Pstrusińska, Anna Wasilewska, Piotr Adamczyk, Marcin Tkaczyk, Małgorzata Pańczyk-Tomaszewska, Monika Miklaszewska, Krzysztof Pawlaczyk, Ewelina Bukowska-Olech, Aleksander Jamsheer, Augustina Jankauskiene, Jens König, Hae Il Cheong, Yo Han Ahn, Sophie Kaspar, Przemysław Sikora, Bodo B Beck, Marcin Zaniew
BACKGROUND: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT). METHODS: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect...
January 10, 2024: Pediatric Nephrology
#30
Asha Anand, Clara C Hildebrandt, Vivek Shenoy, Richard W Sutherland
Congenital anomalies of the kidney and urinary tract (CAKUT) are estimated to be responsible for 20%-50% of congenital anomalies and are also a leading etiology of early-onset renal disease. Primary CAKUT are caused by genetic factors that impair proper in-utero genitourinary tract development and secondary CAKUT result from the influence of environmental factors. The CHRNA3 gene, which encodes the Alpha-3 subunit of the nicotinic acetylcholine receptor, is hypothesized to be associated with Megacystis-microcolon-intestinal hyperperistalsis syndrome...
January 8, 2024: American Journal of Medical Genetics. Part A
#31
JOURNAL ARTICLE
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, Efrat Sofrin-Drucker, Markus Kraiger, Adrián Sanz-Moreno, Oana V Amarie, Birgit Rathkolb, Tanja Klein-Rodewald, Lillian Garrett, Sabine M Hölter, Claudia Seisenberger, Stefan Haug, Pascal Schlosser, Susan Marschall, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Matthias Wuttke, Martin Hrabe de Angelis, Jasmina Ćomić, Özlem Akgün Doğan, Yasemin Özlük, Mehmet Taşdemir, Ayşe Ağbaş, Nur Canpolat, Naama Orenstein, Salim Çalışkan, Ruthild G Weber, Carsten Bergmann, Cecile Jeanpierre, Sophie Saunier, Tze Y Lim, Friedhelm Hildebrandt, Bader Alhaddad, Lina Basel-Salmon, Yael Borovitz, Kaman Wu, Dinu Antony, Julia Matschkal, Christian W Schaaf, Lutz Renders, Christoph Schmaderer, Manuel Rogg, Christoph Schell, Thomas Meitinger, Uwe Heemann, Anna Köttgen, Sebastian J Arnold, Fatih Ozaltin, Miriam Schmidts, Julia Hoefele
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. However, disease-causing variants in known disease-associated genes only explain a proportion of cases. Here, we aim to unravel underlying molecular mechanisms of syndromic CAKUT in three unrelated multiplex families with presumed autosomal recessive inheritance. Exome sequencing in the index individuals revealed three different rare homozygous variants in FOXD2, encoding a transcription factor not previously implicated in CAKUT in humans: a frameshift in the Arabic and a missense variant each in the Turkish and the Israeli family with segregation patterns consistent with autosomal recessive inheritance...
December 26, 2023: Kidney International
#32
JOURNAL ARTICLE
Judy Savige
Genetic kidney disease is common but often unrecognized. It accounts for most cystic kidney diseases and tubulopathies, many forms of CAKUT, and some glomerulopathies. Genetic kidney disease is typically suspected where the disease usually has a genetic basis, or there is another affected family member, a young age at onset, or extra- renal involvement, but there are also many exceptions to these guidelines. Genetic testing requires the patient's written informed consent. Where a patient declines testing it may be worthwhile reassessing later...
December 24, 2023: American Journal of Kidney Diseases
#33
REVIEW
Mudassir Wani, Ahmed Haider Abdalla Mohamed, Gareth Brown, Seshadri Sriprasad, Sanjeev Madaan
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a wide range of disorders that result from developmental abnormalities of the kidneys, urinary collecting tract, and lower urinary tract. There has been extensive development in approaches to the management of stones in normal kidneys with the advent of retrograde intra-renal surgeries (RIRS)/ureteroscopies, extracorporeal shock wave lithotripsy (ESWL) percutaneous nephrolithotomy (PCNL), and minimally invasive surgery (laparoscopy/robotics)...
2023: Therapeutic Advances in Urology
#34
REVIEW
Jürgen Weidemann, Matthias Waginger, Hans-Joachim Mentzel
CLINICAL PROBLEM: Congenital anomalies of the kidney and urinary tract (CAKUT) are very common findings in fetal diagnostics. Their effects range from variants without pathological significance to pronounced functional impairment with the need for renal replacement therapy in childhood. Sometimes the genital organs are also affected. The aim of the article is to provide an overview of embryology and examples of key findings. IMAGING PROCEDURES: In the fetal period, magnetic resonance imaging (MRI) is used, while postnatally, sonography with the option of contrast-enhanced micturition urosonography (MUS, ceVUS) dominates imaging in pediatric radiology, supplemented in individual cases by fluoroscopy (micturition cysturethrography) and MRI...
December 14, 2023: Radiologie (Heidelb)
#35
JOURNAL ARTICLE
Khalid Alhasan, Amro Attaf Alsalmi, Weiam Almaiman, Adi J Al Herbish, Afrah Farhat, Ibrahim Sandokji, Majed Aloufi, Hassan Yahya Faqeehi, Naif Abdulmajeed, Abdulkarim Alanazi, Abdulaziz AlHassan, Abdulaziz Alshathri, Abeer Mohammad Almalki, Afaf Alawi Bafageeh, Ali M Aldajani, Ashraf AlMuzain, Faten Sudan Almuteri, Haydar Hassan Nasser, Khalid Al Alsheikh, Khamisa Mohamed Almokali, Magbul Maghfuri, Mohamed Waleed Abukhatwah, Muawia Abdulla Mohamed Ahmed, Naeima Fatani, Naffaa Al-Harbi, Rezqah Fajor AlDhaferi, Sulaiman Amohaimeed, Zahra Hussain AlSannaa, Mohamed A Shalaby, Rupesh Raina, Dieter Clemens Broering, Jameela A Kari, Mohamad-Hani Temsah
BACKGROUND: This study aimed to determine the prevalence and etiology of kidney failure (KF) among children below 15 years of age receiving chronic dialysis in Saudi Arabia and describe their dialysis modalities. METHODS: This cross-sectional descriptive study was conducted on 8 August 2022, encompassing all 23 pediatric dialysis centers in Saudi Arabia. Data gathered comprised patient demographics, causes of KF, and the dialysis methods employed. Collected data underwent analysis to determine prevalence of children undergoing chronic dialysis, discern underlying causes of KF, and evaluate distribution of patients across different dialysis modalities...
December 13, 2023: Pediatric Nephrology
#36
JOURNAL ARTICLE
Giulio Rivetti, Pietro Gizzone, Anna Di Sessa, Stefano Guarino, Emanuele Miraglia Del Giudice, Pierluigi Marzuillo
No abstract text is available yet for this article.
December 13, 2023: Expert Review of Clinical Pharmacology
#37
JOURNAL ARTICLE
Alessia Marcellino, Riccardo Lubrano
No abstract text is available yet for this article.
December 12, 2023: Expert Review of Clinical Pharmacology
#38
Ewelina Malanowska-Jarema, Andrzej Starczewski, Yana Osnytska, Mariola Krzyścin, Elżbieta Sowińska-Przepiera, Matteo Balzarro, Emanuele Rubilotta
We present here a case of complex uterine anomaly-obstructed hemivagina with ipsilateral renal agenesis (OHVIRA), also known as Herlyn-Werner-Wunderlich syndrome in a 13-year-old girl with a history of recurrent urinary tract infections (rUTI). In the emergency room, a trans-abdominal sonography revealed an ovarian cyst and renal agenesis, without any suspicion of vaginal obstruction. This led to a delay in the diagnosis of this uncommon anomaly. Finally, MRI findings confirmed the presence of OHVIRA syndrome...
November 22, 2023: Journal of Clinical Medicine
#39
JOURNAL ARTICLE
Hsin-Hsu Chou, Chih-Chia Chen, Ching-Fang Tsai, Pao-Lin Kuo, Yuan-Yow Chiou
BACKGROUND: The relationship between maternal chronic diseases and congenital anomalies of the kidneys and urinary tract (CAKUT) in offspring still needs elucidation. This study aimed to comprehensively evaluate the associations between maternal chronic disease and CAKUT in their offspring. METHODS: Data of mothers and children were extracted from the Taiwan Maternal and Child Health Database and National Health Insurance Research Database. The concept of developmental origins of health and disease (DOHaD) was used to select maternal chronic diseases...
December 2023: Clinical Kidney Journal
#40
JOURNAL ARTICLE
Zhelan Huang, Qian Shen, Bingbing Wu, Huijun Wang, Xinran Dong, Yulan Lu, Guoqiang Cheng, Laishuan Wang, Wei Lu, Liping Chen, Wenqing Kang, Long Li, Xinnian Pan, Qiufen Wei, Deyi Zhuang, Dongmei Chen, Zhaoqing Yin, Ling Yang, Qi Ni, Renchao Liu, Gang Li, Ping Zhang, Yanyan Qian, Xiaomin Peng, Yao Wang, Yun Cao, Hong Xu, Liyuan Hu, Lin Yang, Wenhao Zhou
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) corresponds to a spectrum of defects. Several large-cohort studies have used high-throughput sequencing to investigate the genetic risk of CAKUT during antenatal, childhood, and adulthood period. However, our knowledge of newborns with CAKUT is limited. METHODS: This multicenter retrospective cohort study explored the genetic spectrum of CAKUT in a Chinese neonatal cohort. Clinical data and whole exome sequencing (WES) data of 330 newborns clinically diagnosed with CAKUT were collected...
November 2023: KI Reports
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