Review
Urology & Nephrology
Whitney S. Thompson, Samir N. Babayev, Michelle L. McGowan, Andrea G. Kattah, Myra J. Wick, Ellen M. Bendel-Stenzel, Fouad T. Chebib, Peter C. Harris, Neera K. Dahl, Vicente E. Torres, Christian Hanna
Summary: There is a wide range of phenotypic spectrum in monogenic polycystic kidney diseases (PKDs), often involving cilia-related genes. Preimplantation genetic testing for monogenic disorders has shown success in autosomal-dominant and autosomal-recessive PKD, although technical limitations exist. This technology can be applied to various other forms of monogenic PKD and ciliopathies, despite the lack of literature reports.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Jessica L. Chaperon, Nina M. Wemmer, Trudy A. McKanna, Dinah M. Clark, Maggie A. Westemeyer, Philippe Gauthier, Yan Bai, Jessica M. Coleman
Summary: The study shows that the pursuit of PGT-M by couples at risk of passing on conditions with a kidney component is common and has significantly increased since 2010. The number of PGT-M tests performed for conditions involving kidney disease has increased from 5 cases in 2010 to 47 cases in the 2020 study period.
AMERICAN JOURNAL OF NEPHROLOGY
(2021)
Article
Urology & Nephrology
Rupesh Raina, Ronith Chakraborty, Sidharth K. Sethi, Deepak Kumar, Kelly Gibson, Carsten Bergmann
Summary: This article discusses various genetic and sporadic kidney cystic diseases, highlighting the importance of early detection and effective management in the pediatric population at risk for chronic kidney disease.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2021)
Article
Medicine, General & Internal
Min Xiao, Hua Shi, Jia Rao, Yanping Xi, Shuo Zhang, Junping Wu, Saijuan Zhu, Jing Zhou, Hong Xu, Caixia Lei, Xiaoxi Sun
Summary: Genetic kidney disease is a major cause of morbidity and mortality in neonates and children. A customized preimplantation genetic testing plan is crucial for reducing the incidence of genetic kidney disease and implementing reproductive genetic intervention.
FRONTIERS IN MEDICINE
(2022)
Article
Urology & Nephrology
Neera K. Dahl, Michelle S. Bloom, Fouad T. Chebib, Dinah Clark, Maggie Westemeyer, Sara Jandeska, Zhiji Zhang, Hila Milo-Rasouly, Victoria Kolupaeva, Maddalena Marasa, Varshasb Broumand, Richard A. Fatica, Dominic S. Raj, Zachary P. Demko, Kyle Marshall, Sumit Punj, Hossein Tabriziani, Sangeeta Bhorade, Ali G. Gharavi
Summary: Genetic testing in patients with CKD has been shown to have significant impact on clinical diagnosis and management, including changes in treatment plans. By using a 385 gene panel for genetic testing, clinical diagnoses can be substantially refined and have widespread implications for patient management.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Medicine, General & Internal
Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu, Ming Chen
Summary: Advances in genomic medicine have revolutionized the diagnostics and counseling for hereditary hearing impairment (HHI), including preimplantation genetic diagnosis (PGD). PGD has been successfully applied to different inheritance modes and phenotypes of HHI, providing parents-to-be with better reproductive choices.
Article
Genetics & Heredity
Meiying Cai, Hailong Huang, Liangpu Xu, Na Lin
Summary: This study aimed to classify and evaluate abnormal copy number variations (CNVs) in fetuses with ventriculomegaly (VM). Among the fetuses with VM, a portion were found to have pathogenic CNVs, with some associated with known disease syndromes. There was no significant difference in the rate of pathogenic CNVs among different types of fetuses with VM, and most of the fetuses with successful follow-up had a good prognosis after birth.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Huimin Tao, Lin Zhang, Fangfang Tan, Yu Han, Xuezhen Wang, Jiebin Wu, Jingfang Zhai
Summary: In this study, the genetic etiology of fetal ventriculomegaly (VM) and related pregnancy outcomes were systematically investigated. Chromosomal abnormalities and copy number variations (CNVs) were found to be associated with VM. Dynamic ultrasound screening and multidisciplinary evaluation were also essential in assessing the possible outcomes of fetuses with VM.
FRONTIERS IN GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Michele Della Corte, Davide Viggiano
Summary: The formation of cysts is a common feature in several renal diseases, including genetic forms like ADPKD and acquired forms like ACKD. The pathogenesis of these diseases involves localized tubular obstruction and/or alteration of tubular wall tension, leading to the development of cysts. ADPKD genes are widely expressed in various organs and interact with the extracellular matrix, potentially modifying wall tension. This understanding may suggest new therapeutic targets for the treatment of cystic kidney diseases.
Article
Pediatrics
Kirsten Kusumi, Rupesh Raina, Joshua Samuels, Abhishek Tibrewal, Susan Furth, Mark Mitsnefes, Sritej Devineni, Bradley A. Warady
Summary: This study provides a detailed analysis of cardiovascular disease (CVD) risk factors and outcomes in two pediatric chronic kidney disease (CKD) cohorts. Patients with cystic kidney disease had higher arterial stiffness index (AASI) scores, a higher incidence of left ventricular hypertrophy (LVH), and higher rates of anti-hypertensive medication use, indicating a greater burden of CVD despite similar kidney function (GFR).
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Mark D. Elliott, Maddalena Marasa, Enrico Cocchi, Natalie Vena, Jun Y. Zhang, Atlas Khan, Sarath Krishna Murthy, Shiraz Bheda, Hila Milo Rasouly, Gundula Povysil, Krzysztof Kiryluk, Ali G. Gharavi
Summary: APOL1 genotype has significant effects on kidney disease development and progression, with various effect modifiers. High-risk APOL1 genotypes are associated with increased risk of kidney failure, faster eGFR decline rate, and younger age of kidney failure onset. Rare missense variants in the inflammasome pathway may act as genetic modifiers of APOL1 effect on kidney disease.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Ken Ishii, Hanako Kobayashi, Kensei Taguchi, Nan Guan, Andraia Li, Carmen Tong, Olena Davidoff, Pamela Tran, Madhulika Sharma, Navdeep S. Chandel, Meghan E. Kapp, Agnes B. Fogo, Craig R. Brooks, Volker H. Haase
Summary: TFAM deficiency disrupts mitochondrial function in kidney cells, leading to impaired nephron maturation and severe cystic disease development; reduced TFAM expression and mitochondrial depletion are molecular features of kidney cystic disease, suggesting their contribution to pathogenesis.
KIDNEY INTERNATIONAL
(2021)
Letter
Medicine, General & Internal
Adriana J. Wong, Alan H. DeCherney
Summary: This article points out a limitation of a clinical study, stating that its conclusions have certain limitations and may not be applicable to all clinical practices. The choice of outcome measures in the study may also lack clinical relevance, and there are restrictions on the study population, which raises concerns about the incidence of aneuploidy among the subjects.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Medicine, General & Internal
Junhao Yan, Yingying Qin, Han Zhao, Yun Sun, Fei Gong, Rong Li, Xiaoxi Sun, Xiufeng Ling, Hong Li, Cuifang Hao, Jichun Tan, Jing Yang, Yimin Zhu, Fenghua Liu, Dawei Chen, Daimin Wei, Juanjuan Lu, Tianxiang Ni, Wei Zhou, Keliang Wu, Yuan Gao, Yuhua Shi, Yao Lu, Ting Zhang, Wei Wu, Xiang Ma, Hailan Ma, Jing Fu, Junqiang Zhang, Qingxia Meng, Heping Zhang, Richard S. Legro, Zi-Jiang Chen
Summary: In this randomized, controlled trial comparing PGT-A with conventional IVF in women with three or more good-quality blastocysts, it was found that the cumulative live-birth rate with conventional IVF was noninferior to that with PGT-A.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Urology & Nephrology
Francesca Becherucci, Samuela Landini, Viviana Palazzo, Luigi Cirillo, Valentina Raglianti, Gianmarco Lugli, Lucia Tiberi, Elia Dirupo, Stefania Bellelli, Tommaso Mazzierli, Jacopo Lomi, Fiammetta Ravaglia, Giulia Sansavini, Marco Allinovi, Domenico Giannese, Chiara Somma, Giuseppe Spatoliatore, Debora Vergani, Rosangela Artuso, Alberto Rosati, Calogero Cirami, Pietro Claudio Dattolo, Gesualdo Campolo, Letizia De Chiara, Laura Papi, Augusto Vaglio, Elena Lazzeri, Hans-Joachim Anders, Benedetta Mazzinghi, Paola Romagnani
Summary: WES can increase the diagnostic rate of genetic kidney disorders. This study identified several clinical criteria that were predictive of genetic diagnosis, and applied a multistep workflow incorporating WES to successfully diagnose a high percentage of patients.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)