Article
Pediatrics
Jiandong Lu, Xiaozhu Liu, Yi Wei, Chengjun Yu, Jie Zhao, Ling Wang, Yang Hu, Guanghui Wei, Shengde Wu
Summary: This study investigated the clinical features and microbial etiology of urinary tract infection (UTI) in children. It found that Escherichia coli was the most common causative microorganism of UTI. Furthermore, children with urological malformations were more likely to develop UTI with atypical microorganisms and required longer treatment, higher treatment costs, and had a higher prevalence of recurrence.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Nela Kelam, Anita Racetin, Mirjana Polovic, Benjamin Benzon, Marin Ogorevc, Katarina Vukojevic, Merica Glavina Durdov, Ana Dunatov Huljev, Ivana Kuzmic Prusac, Davor Caric, Fila Raguz, Sandra Kostic
Summary: This study investigates the expression patterns of candidate genes for kidney and urinary tract congenital anomalies in human fetal kidney development. The results reveal significant variations in the expression patterns of these genes, suggesting their involvement in CAKUT pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Urology & Nephrology
Ronit Calderon-Margalit, Gil Efron, Oren Pleniceanu, Dorit Tzur, Michal Stern-Zimmer, Arnon Afek, Tomer Erlich, Estela Derazne, Jeremy D. Kark, Lital Keinan-Boker, Gilad Twig, Asaf Vivante
Summary: The study revealed that individuals with congenital anomalies of the kidney and urinary tract (CAKUT) had a significantly increased risk of developing urinary tract (UT) cancer in adulthood, particularly before 45 years of age for women and after 45 years of age for men. Despite the increased risk, the incidence and absolute risk of UT cancer remained relatively low.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Urology & Nephrology
Verena Klaembt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M. P. Zegers, Friedhelm Hildebrandt
Summary: Through exome sequencing of 1265 families with CAKUT, six different hemizygous variants in ARHGEF6 gene were identified, which may lead to X-linked CAKUT. Experimental results showed that ARHGEF6 mutations can cause dysregulation of integrin-parvin-RAC1/CDC42 signaling and induce CAKUT.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Pediatrics
James Virth, Heather G. Mack, Deb Colville, Emma Crockett, Judy Savige
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects worldwide, which can lead to kidney failure in children. This study investigated the ocular features associated with CAKUT-associated genes and found that a significant number of these genes also have ocular abnormalities. These findings suggest a genetic basis for both CAKUT and ocular anomalies in affected individuals.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Elizabeth Spiwak, Corina Nailescu, Andrew Schwaderer
Summary: There is no significant difference in the occurrence of UTIs after kidney transplant between children with structural kidney disease and those with non-structural kidney disease.
FRONTIERS IN PEDIATRICS
(2022)
Article
Urology & Nephrology
Talia Israel, Weissbach Tal, Yael Pasternak, Alina Weissmann-Brenner
Summary: This retrospective study looked at the short and long-term outcomes of children prenatally diagnosed with CAKUT. It found that children with major renal anomalies experienced more recurrent UTIs, required more preventive antibiotics, and had more renal surgeries than those with milder forms of CAKUT. Children diagnosed with CAKUT in utero usually had good outcomes during the first decade of life.
JOURNAL OF NEPHROLOGY
(2022)
Article
Pediatrics
Lavinia Postolache, Afshin Parsa, Paolo Simoni, Grammatina Boitsios, Khalid Ismaili, Thierry Schurmans, Anne Monier, Georges Casimir, Adelin Albert, Cameron F. Parsa
Summary: This study found that children with Down syndrome have significantly smaller kidneys and evidence of decreased kidney function. Furthermore, some children also had undiagnosed kidney and/or urinary tract anomalies. These findings highlight the need for universal anatomical and functional assessment of all individuals with Down syndrome.
PEDIATRIC NEPHROLOGY
(2022)
Review
Urology & Nephrology
Kamal Khan, Dina F. Ahram, Yangfan P. Liu, Rik Westland, Rosemary Sampogna, Nicholas Katsanis, Erica E. Davis, Simone Sanna-Cherchi
Summary: Despite the increasing number of reports on CAKUT, the genetic diagnostic yield remains low due to complex inheritance patterns and multigene interactions. Innovative genetic and molecular approaches are needed to overcome these challenges.
KIDNEY INTERNATIONAL
(2022)
Article
Urology & Nephrology
Johannes Muench, Marie Engesser, Ria Schoenauer, J. Austin Hamm, Christin Hartig, Elena Hantmann, Gulsen Akay, Davut Pehlivan, Tadahiro Mitani, Zeynep Coban Akdemir, Beyhan Tuysuz, Toshihiko Shirakawa, Sumito Dateki, Laura R. Claus, Albertien M. van Eerde, Thomas Smol, Louise Devisme, Helene Franquet, Tania Attie-Bitach, Timo Wagner, Carsten Bergmann, Anne Kathrin Hoehn, Shirlee Shril, Ari Pollack, Tara Wenger, Abbey A. Scott, Sarah Paolucci, Jillian Buchan, George C. Gabriel, Jennifer E. Posey, James R. Lupski, Florence Petit, Andrew A. McCarthy, Gregory J. Pazour, Cecilia W. Lo, Bernt Popp, Jan Halbritter
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney failure in children. However, the majority of cases remain etiologically unsolved. Recent research has identified genetic alterations in the ROBO1 gene associated with kidney and genitourinary defects, providing new insights for the diagnosis and treatment of CAKUT.
KIDNEY INTERNATIONAL
(2022)
Article
Pediatrics
Khalid Taha, Marisa Catapang, Brian Becknell, Douglas G. Matsell
Summary: Hypertension is common in children with CAKUT and the prevalence varies across different CAKUT types. Hypertension also increases the risk of CKD. These findings will contribute to the development of standardized clinical pathways for hypertensive children with CAKUT.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Aarthi Viswanathan, Lesa Dawman, Karalanglin Tiewsoh, Akshay Kumar Saxena, Sourabh Dutta, Deepti Suri
Summary: The study found that a certain proportion of first-degree relatives of children with non-syndromic CAKUT have renal anomalies, especially in families with familial cystic kidney disease. This suggests that familial inheritance plays a role in the disease.
CLINICAL AND EXPERIMENTAL NEPHROLOGY
(2021)
Review
Pediatrics
Laura Walawender, Brian Becknell, Douglas G. Matsell
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) are disruptions in normal kidney and urinary tract development during fetal life, and they are the most common cause of kidney failure in children worldwide. The causes of CAKUT are diverse, including gene mutations, environmental factors, and obstruction. The clinical outcomes vary depending on the timing and severity of the insult and obstruction. In this review, we discuss the common forms of CAKUT and their long-term complications, as well as the risk factors for kidney injury and disease progression.
PEDIATRIC NEPHROLOGY
(2023)
Article
Obstetrics & Gynecology
Yinv Gong, Hong Xu, Yun Li, Yuqing Zhou, Minji Zhang, Qian Shen, Jun Huang, Hui Xu, Yunli Bi, Hong Chen, Ying Zhang, Jie Wang
Summary: This prospective observational study aimed to establish a suitable model for postnatal follow-up and management of prenatal renal and urinary tract anomalies in Shanghai, China. By categorizing newborns into different groups based on prenatal findings and implementing a presumed management strategy, the majority of patients had a favorable outcome, highlighting the importance of close collaboration among healthcare professionals.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2021)
Article
Pediatrics
Yuling Liu, Hua Shi, Xiaojing Yu, Tianchao Xiang, Ye Fang, Xian Xie, Xiaofen Pan, Xiaolin Li, Zhicai Sun, Bihong Zhang, Simao Fu, Jia Rao
Summary: Ultrasound screening in the early postnatal period is valuable for the detection of congenital anomalies of the kidney and urinary tract (CAKUT). Risk factors for early detection of CAKUT by postnatal ultrasound screening include preterm birth, oligohydramnios, antenatal ultrasound screening anomalies, and gestational hypothyroidism.
FRONTIERS IN PEDIATRICS
(2022)
Letter
Hematology
Celine Besson-Fournier, Aurelie Gineste, Chloe Latour, Ophelie Gourbeyre, Delphine Meynard, Patricia Martin, Eric Oswald, Helene Coppin, Marie-Paule Roth
Article
Hematology
Chloe Latour, Myriam F. Wlodarczyk, Grace Jung, Aurelie Gineste, Nicolas Blanchard, Tomas Ganz, Marie-Paule Roth, Helene Coppin, Leon Kautz
Article
Biotechnology & Applied Microbiology
R. Juge, P. Rouaud-Tinguely, J. Breugnot, K. Servaes, C. Grimaldi, M. -P. Roth, H. Coppin, B. Closs
JOURNAL OF APPLIED MICROBIOLOGY
(2018)
Meeting Abstract
Dermatology
P. Rouaud-Tinguely, R. Juge, C. Mainzer, D. Boudier, M. Roth, H. Coppin, B. Closs
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2018)
Article
Genetics & Heredity
Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2018)
Article
Biochemistry & Molecular Biology
Thibault Cavey, Chloe Latour, Marie-Laure Island, Patricia Leroyer, Pascal Guggenbuhl, Helene Coppin, Marie-Paule Roth, Claude Bendavid, Pierre Brissot, Martine Ropert, Olivier Loreal
Article
Genetics & Heredity
Claude Stoll, Beatrice Dott, Marie-Paule Roth
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Letter
Hematology
Audrey Belot, Ophelie Gourbeyre, Fay Alexis, Anais Palin, Celine Besson-Fournier, Chloe Latour, Corey R. Hopkins, George F. Tidmarsh, Helene Coppin, Marie-Paule Roth, Matthew R. Ritter, Charles C. Hong, Delphine Meynard
Article
Genetics & Heredity
Claude Stoll, Yves Alembick, Beatrice Dott, Marie-Paule Roth
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Letter
Hematology
Audrey Belot, Ophelie Gourbeyre, Anais Palin, Aude Rubio, Amelie Largounez, Celine Besson-Fournier, Chloe Latour, Megane Lorgouilloux, Inka Gallitz, Alexandra Montagner, Arnaud Polizzi, Marion Regnier, Sarra Smati, An-Sheng Zhang, Manuel D. Diaz-Munoz, Andrea U. Steinbicker, Herve Guillou, Marie-Paule Roth, Helene Coppin, Delphine Meynard
Article
Microbiology
Camille Chagneau, Clemence Massip, Nadege Bossuet-Greif, Christophe Fremez, Jean-Paul Motta, Ayaka Shima, Celine Besson, Pauline Le Faouder, Nicolas Cenac, Marie-Paule Roth, Helene Coppin, Maxime Fontanie, Patricia Martin, Jean-Philippe Nougayrede, Eric Oswald
Summary: This study found the presence of the genotoxin Colibactin in the urine of patients with urinary tract infections, and demonstrated its genotoxicity in bladder cells. This discovery raises the hypothesis of a potential link between urinary tract infections and bladder cancer.
Article
Genetics & Heredity
Claude Stoll, Yves Alembik, Marie-Paule Roth
Summary: The frequency and types of anomalies co-occurring with omphalocele and gastroschisis are variable, necessitating screening for anomalies in cases with these conditions.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Correction
Genetics & Heredity
C. Stoll, B. Dott, Y. Alembik, M. P. Roth
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Meeting Abstract
Hematology
Chloe Latour, Celine Besson-Fournier, Ophelie Gourbeyre, Delphine Meynard, Aguilar-Martinez Patricia, Marie-Paule Roth, Helene Coppin
Article
Hematology
Chloe Latour, Celine Besson-Fournier, Ophelie Gourbeyre, Delphine Meynard, Marie-Paule Roth, Helene Coppin