Review
Urology & Nephrology
Zhengying Fang, Chunli Zhang, Yuanmeng Jin, Jun Tong, Jian Liu, Xu Hao, Qinjie Weng, Shuwen Yu, Wen Du, Yikai Cai, Qimin Zheng, Li Yang, Hong Ren, Xiaoxia Pan, Jingyuan Xie
Summary: A 19-year-old male Chinese patient with nephrotic syndrome had a complete remission of symptoms after full-dose prednisone and cyclosporine treatment, but experienced a relapse during tapering of prednisone. Kidney biopsy confirmed the presence of focal segmental glomerulosclerosis, and whole-exome sequencing revealed a pathogenic variant in the TBC domain of the TBC1D8B gene. Comparisons with other patients with TBC1D8B variants provided possible genotype-phenotype correlations. This is the first report of a pathogenetic variant in the TBC domain of TBC1D8B in an adult-onset focal segmental glomerulosclerosis patient with steroid-dependent nephrotic syndrome.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2023)
Review
Clinical Neurology
Shufan Zhang, Shilin Yang, Jiahong Lu, Shaojun Liu, Weicheng Wu, Mingshi Gao, Jie Lin, Xiangjun Chen, Dongqing Zhu, Shuang Ye, Chun Yu, Shufen Chen, Qiang Dong, Bing Zhu, Xiang Han
Summary: This study investigated the role of neurofascin186 (NF186) in the pathogenesis of concurrent focal segmental glomerulosclerosis (FSGS) in CIDP-like autoimmune nodopathy patients. The results suggest that NF186 may be a targeted antigen in the development of FSGS in CIDP-like autoimmune nodopathy patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Urology & Nephrology
Satoru Kudose, Dominick Santoriello, Andrew S. Bomback, Miroslav Sekulic, Ibrahim Batal, M. Barry Stokes, Iman A. Ghavami, Jung S. Kim, Maddalena Marasa, Katherine Xu, Yonatan Peleg, Jonathan Barasch, Pietro Canetta, Hila Milo Rasouly, Ali G. Gharavi, Glen S. Markowitz, Vivette D. D'Agati
Summary: This study reviewed kidney biopsies of 76 patients with COVID-19, identifying 23 cases of collapsing glomerulopathy and 7 cases of noncollapsing podocytopathies. It was found that dialysis was required for half of the Black patients with collapsing glomerulopathy patients.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Transplantation
Francois Gougeon, Harsharan K. Singh, Volker Nickeleit
Summary: This study analyzed renal comorbidities in collapsing focal segmental glomerulosclerosis (FSGS) and found that collapsing glomerulopathy (CG) has a higher rate of comorbidities compared to tip-variant FSGS (T-FSGS). The study showed that vascular diseases, especially stenosing vasculopathies, were more prevalent in CG with comorbidities. Membranous glomerulopathies were also more common in native kidneys with accompanied CG. These findings are important for understanding the pathogenesis and possible therapeutic strategies for CG.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Review
Medicine, General & Internal
Aleksandra Musiala, Piotr Donizy, Hanna Augustyniak-Bartosik, Katarzyna Jakuszko, Miroslaw Banasik, Katarzyna Koscielska-Kasprzak, Magdalena Krajewska, Dorota Kaminska
Summary: FSGS involves podocyte injury and is diagnosed through renal biopsy. The specific circulating factors causing primary FSGS are still unknown, but several potential molecules have been identified.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Urology & Nephrology
Marina de Cos, Kristin Meliambro, Kirk N. Campbell
Summary: Focal segmental glomerulosclerosis is a renal injury pattern characterized by sclerosis in certain parts of the glomeruli, leading to a reduction in podocyte numbers. The underlying causes and clinical phenotypes of FSGS are diverse. Recent research has brought new hope in the classification and treatment of FSGS.
KIDNEY INTERNATIONAL REPORTS
(2022)
Editorial Material
Urology & Nephrology
Adam D. Morris, Lauren Floyd, Alexander Woywodt, Ajay Dhaygude
Summary: Rituximab may be an effective treatment for primary FSGS, but further research and randomized controlled trials are needed to confirm its efficacy and optimal use.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Chemistry, Medicinal
Zhuang Zhang, Lili Chen, Hongtao Tian, Mengru Liu, Shan Jiang, Jianhua Shen, Kai Wang, Zhengyu Cao
Summary: The synthesis and biological evaluation of a series of pyrroledione TRPC5 inhibitors has led to the discovery of compound 16g with subtype selectivity, showing improved inhibition of TRPC5 and enhanced protective effect against PS-induced podocyte injury in vitro. Compound 16g also demonstrated no cell death in primary cultured hepatocytes and immortalized podocytes in a preliminary toxicity assessment, suggesting its potential as a potent and safe inhibitor for studying the function of TRPC5.
BIOORGANIC & MEDICINAL CHEMISTRY LETTERS
(2022)
Article
Biochemistry & Molecular Biology
Lilas Batool, Krithika Hariharan, Yao Xu, Mario Kassmann, Dmitry Tsvetkov, Bjoern-Oliver Gohlke, Sylvia Kaden, Manfred Gossen, Bernd Nuernberg, Andreas Kurtz, Maik Gollasch
Summary: Mutations in TRPC6 gene cause familial focal segmental glomerulosclerosis (FSGS) and are inherited dominantly. Majority of TRPC6 mutations result in missense changes affecting calcium influx; however, the underlying molecular mechanisms for cell injury and kidney pathology remain unclear. A novel TRPC6 mutation (V691Kfs*) was identified in a large kindred without FSGS despite truncated TRPC6 protein. Functional studies showed that V691Kfs* mutation leads to closure of ion-conducting pathway and fully inactivates the TRPC6 channel-specific calcium influx, suggesting a complete loss-of-function phenotype. This study emphasizes the importance of increased calcium influx through TRPC6 for podocyte cell death.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Chemistry, Medicinal
Li Lin, Weiming Wang, YiFan Wu, JingYuan Xie, Xiao Li, XiaoXia Pan, Wen Zhang, Jing Xu, YiKai Cai, Hong Ren, Nan Chen
Summary: The study demonstrates that RTX is highly effective in treating minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS), and recommends RTX consolidation therapy to significantly reduce the risk of relapse and reinforce long-term remission.
DRUG DESIGN DEVELOPMENT AND THERAPY
(2021)
Article
Biochemistry & Molecular Biology
Lioba Ester, Ines Cabrita, Michel Ventzke, Emilia Kieckhoefer, Marita Christodoulou, Amrei M. Mandel, Paul Diefenhardt, Francesca Fabretti, Thomas Benzing, Sandra Habbig, Bernhard Schermer
Summary: The study reveals a connection between the FSGS disease protein NUP205 and the activity of transcriptional regulators and Hippo effectors YAP and TAZ, proposing a potential pathological role of YAP/TAZ dysregulation in podocytes of patients with pathogenic NUP205 variants.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Dian Bao, Hua Su, Chun-Tao Lei, Hui Tang, Chen Ye, Wei Xiong, Fang-Fang He, Ji-Hong Lin, Hans-Peter Hammes, Chun Zhang
Summary: The study reveals the significant role of ATM kinase-MAD2B axis in the cell cycle reentry of podocytes in FSGS, providing a new insight into the development of therapeutic approaches for the disease.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Xu He, Lingling Yang, Meiqiu Wang, Pei Zhang, Ren Wang, Daxi Ji, Chunlin Gao, Zhengkun Xia
Summary: This study found that reduced expression of GPX4 is associated with focal segmental glomerulosclerosis (FSGS) and targeting ferroptosis could be a promising therapeutic option for FSGS patients. Treatment with the ferroptosis inhibitor Fer1 reduced proteinuria, prevented glomerulosclerosis, and attenuated podocyte injury in an FSGS mouse model.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Urology & Nephrology
Hiroyuki Yamada, Naritoshi Shirata, Shinichi Makino, Takafumi Miyake, Juan Alejandro Oliva Trejo, Kanae Yamamoto-Nonaka, Mitsuhiro Kikyo, Maulana A. Empitu, Ika N. Kadariswantiningsih, Maiko Kimura, Koichiro Ichimura, Hideki Yokoi, Masashi Mukoyama, Akitsu Hotta, Katsuhiko Nishimori, Motoko Yanagita, Katsuhiko Asanuma
Summary: Podocytes play a crucial role in regulating the localization of Nephrin and Neph1, with MAGI-2 being essential for maintaining the integrity of the glomerular filtration barrier. Downregulation of MAGI-2 leads to reduced expression of slit-diaphragm backbone proteins, while its overexpression preserves their localization at intercellular junctions. The PDZ domains of MAGI-2 play a significant role in interacting with slit diaphragm backbone proteins in podocytes, suggesting a mechanism by which these proteins are maintained in their proper locations.
KIDNEY INTERNATIONAL
(2021)
Article
Biochemistry & Molecular Biology
Lili Chen, Zhuang Zhang, Hongtao Tian, Shan Jiang, Yunyun Ji, Mengru Liu, Jianhua Shen, Zhengyu Cao, Kai Wang
Summary: This study reports the synthesis and biological evaluation of a novel series of benzimidazole-based TRPC5 inhibitors. One compound, 8b, is 100-fold more potent than the parent compound, AC1903, in the suppression of TRPC5 channel activity. Interestingly, both AC1903 and 8b also suppressed TRPC4 channel activity with similar potency. Compound 8b also significantly blunts protamine sulfate-induced reorganization of podocyte cytoskeleton, interleukin (IL)-17-induced cell proliferation, and the expression of proinflammatory mediators in human keratinocyte HaCaT cells.
BIOORGANIC & MEDICINAL CHEMISTRY
(2022)
Article
Environmental Sciences
Leonardo Trasande, Sandra India Aldana, Howard Trachtman, Kurunthachalam Kannan, Deborah Morrison, Dimitri A. Christakis, Kathryn Whitlock, Mary Jo Messito, Rachel S. Gross, Rajendiran Karthikraj, Sheela Sathyanarayana
ENVIRONMENTAL POLLUTION
(2020)
Article
Urology & Nephrology
Jonathan P. Troost, Howard Trachtman, Cathie Spino, Frederick J. Kaskel, Aaron Friedman, Marva M. Moxey-Mims, Richard N. Fine, Jennifer J. Gassman, Jeffrey B. Kopp, Liron Walsh, Rong Wang, Debbie S. Gipson
Summary: This study aimed to evaluate the association between reductions in proteinuria after treatment and greater kidney survival in patients with FSGS. The results showed that changes in proteinuria were significantly related to eGFR slope, indicating the potential benefit of reducing proteinuria for preserving kidney function.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2021)
Article
Genetics & Heredity
Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Y. Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina F. Ahram, Vimla S. Aggarwal, Louise E. Bier, Erin L. Heinzen, Ana C. Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Verena Klambt, Amy Kolb, Youying Mao, Christelle Moufawad El Achkar, Adele Mitrotti, Jeremiah Martino, Bodo B. Beck, Janine Altmuller, Marcus R. Benz, Shoji Yano, Mohamad A. Mikati, Talha Gunduz, Heidi Cope, Vandana Shashi, Howard Trachtman, Monica Bodria, Gianluca Caridi, Isabella Pisani, Enrico Fiaccadori, Asmaa S. AbuMaziad, Julian A. Martinez-Agosto, Ora Yadin, Jonathan Zuckerman, Arang Kim, Ulrike John-Kroegel, Amanda Tyndall, Jillian S. Parboosingh, A. Micheil Innes, Agnieszka Bierzynska, Ania B. Koziell, Mordi Muorah, Moin A. Saleem, Julia Hoefele, Korbinian M. Riedhammer, Ali G. Gharavi, Vaidehi Jobanputra, Emma Pierce-Hoffman, Eleanor G. Seaby, Anne O'Donnell-Luria, Heidi L. Rehm, Shrikant Mane, Vivette D. D'Agati, Martin R. Pollak, Gian Marco Ghiggeri, Richard P. Lifton, David B. Goldstein, Erica E. Davis, Friedhelm Hildebrandt, Simone Sanna-Cherchi
Summary: Focal segmental glomerulosclerosis (FSGS) is a major pathology for steroid-resistant nephrotic syndrome (SRNS) and chronic kidney disease, caused by recessive mutations or de novo variants (DNVs). Truncating variants in the TRIM8 gene are associated with FSGS, indicating a link between neuro-renal syndromes and emphasizing the connection between the nervous system and kidneys.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Editorial Material
Urology & Nephrology
Laura Barisoni, Jonathan Barratt, Kirk Campbell, Lauren Eva, Barbara S. Gillespie, Debbie Gipson, Tobias Huber, Meg Jardine, Elaine Kamil, Matthias Kretzler, Lauren Lee, Elena Levtchenk, Ali Poyan Mehr, Patrick H. Nachman, Jun Oh, Moin Saleem, Stuart J. Shankland, Kimberly Smith, Irv Smokler, William Smoyer, Josh Tarnoff, Aliza Thompson, Howard Trachtman, Suneel Udani, Marina Vivarelli, Patrick Walker, Melissa West, Brad H. Rovin
KIDNEY INTERNATIONAL
(2021)
Editorial Material
Urology & Nephrology
Debbie S. Gipson, Joshua Tarnoff, Lauren Lee, Marina Vivarelli, Elena Levtchenko, Jun Oh, William E. Smoyer, Hailey Desmond, Samara Attalla, Howard Trachtman
KIDNEY INTERNATIONAL
(2021)
Article
Pediatrics
Laura Malaga-Dieguez, Howard Trachtman, Robert Giusti
PEDIATRIC CLINICS OF NORTH AMERICA
(2021)
Article
Pediatrics
Jarcy Zee, Michelle T. McNulty, Jeffrey B. Hodgin, Olga Zhdanova, Sangeeta Hingorani, Jonathan Ashley Jefferson, Keisha L. Gibson, Howard Trachtman, Alessia Fornoni, Katherine M. Dell, Heather N. Reich, Serena Bagnasco, Larry A. Greenbaum, Richard A. Lafayette, Debbie S. Gipson, Elizabeth Brown, Matthias Kretzler, Gerald Appel, Kamalanathan K. Sambandam, Katherine R. Tuttle, Dhruti Chen, Meredith A. Atkinson, Marie C. Hogan, Frederick J. Kaskel, Kevin E. Meyers, John O'Toole, Tarak Srivastava, Christine B. Sethna, Michelle A. Hladunewich, J. J. Lin, Cynthia C. Nast, Vimal K. Derebail, Jiten Patel, Suzanne Vento, Lawrence B. Holzman, Ambarish M. Athavale, Sharon G. Adler, Kevin Lemley, John C. Lieske, Jonathan J. Hogan, Crystal A. Gadegbeku, Fernando C. Fervenza, Chia-Shi Wang, Raed Bou Matar, Pamela Singer, Jeffrey B. Kopp, Laura Barisoni, Matthew G. Sampson
Summary: In this study, APOL1 risk variants were significantly associated with certain tissue changes in FSGS patients, while no significant correlations were found in the MCD cohort. This suggests that both one and two risk alleles may be associated with cellular/tissue changes in FSGS.
PEDIATRIC NEPHROLOGY
(2021)
Article
Health Care Sciences & Services
Mara Cohen, Baer Karrington, Howard Trachtman, Caroline Salas-Humara
Summary: This study aims to compare allostatic load (AL) in TGE adolescents and cisgender peers, exploring how it is influenced by psychological stress and societal acceptance. The inclusion of TGE co-investigators ensures respectful and sensitive practices throughout the study. The results have the potential to enhance understanding of health challenges faced by TGE individuals during adolescence.
JMIR RESEARCH PROTOCOLS
(2021)
Article
Environmental Sciences
Melanie H. Jacobson, Yinxiang Wu, Mengling Liu, Kurunthachalam Kannan, Adela Jing Li, Morgan Robinson, Bradley A. Warady, Susan Furth, Howard Trachtman, Leonardo Trasande
Summary: The study found that urinary DAP metabolites were positively associated with renal injury biomarkers KIM-1 and 8-OHdG, as well as eGFR in children with CKD. These findings provide preliminary evidence that DAP metabolites in urine are related to subclinical kidney injury in children with CKD, which may indicate future clinical events.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Urology & Nephrology
Mahmoud Kallash, Yujie Wang, Abigail Smith, Howard Trachtman, Rasheed Gbadegesin, Carla Nester, Pietro Canetta, Chen Wang, Tracy E. Hunley, C. John Sperati, David Selewski, Isabelle Ayoub, Tarak Srivastava, Amy K. Mottl, Jeffrey Kopp, Brenda Gillespie, Bruce Robinson, Dhruti Chen, Julia Steinke, Katherine Twombley, Kimberly Reidy, Krzysztof Mucha, Larry A. Greenbaum, Brooke Blazius, Margaret Helmuth, Peleg Yonatan, Rulan S. Parekh, Susan Hogan, Virginie Royal, Vivette D'Agati, Aftab Chishti, Ronald Falk, Ali Gharavi, Lawrence Holzman, Jon Klein, William Smoyer, Matthias Kretzler, Debbie Gipson, Jason M. Kidd
Summary: Background: FSGS is a heterogeneous diagnosis with a guarded prognosis. APOL1 gene polymorphisms are associated with developing FSGS and faster progression to kidney failure. Understanding the natural history of FSGS patients with APOL1 risk alleles is important for patient care and intervention studies.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Endocrinology & Metabolism
Alexandra Sawyer, Evan Zeitler, Howard Trachtman, Petter Bjornstad
Summary: This review article focuses on the impact of obesity-related kidney disease (ORKD) and diabetic kidney disease (DKD) in the pediatric population. It highlights the direct and indirect effects of obesity on the kidneys and investigates novel treatments for obesity and type 2 diabetes that protect the kidneys.
CURRENT OBESITY REPORTS
(2023)
Article
Urology & Nephrology
Steven D. Podos, Howard Trachtman, Gerald B. Appel, Andrew S. Bomback, Bradley P. Dixon, Jack F. M. Wetzels, H. Terence Cook, Samir V. Parikh, Matthew C. Pickering, James Tumlin, Craig B. Langman, Liz Lightstone, C. John Sperati, Erica Daina, Koenraad Peter Bouman, Kara Rice, Jane A. Thanassi, Mingjun Huang, Carla Nester, Giuseppe Remuzzi
Summary: This study investigated biomarkers in patients with C3G and found associations between complement biomarkers, kidney function, and kidney histology. These findings are important for understanding C3G and characterizing patients with this heterogeneous disease.
AMERICAN JOURNAL OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Melanie H. Jacobson, Yinxiang Wu, Mengling Liu, Kurunthachalam Kannan, Sunmi Lee, Jing Ma, Bradley A. Warady, Susan Furth, Howard Trachtman, Leonardo Trasande
Summary: This study aimed to examine the associations between serially measured urinary PAH metabolites and clinical and subclinical measures of kidney function in children with CKD. The results showed that PAH metabolites were associated with certain indicators, such as KIM-1 and 8-OHdG concentrations. Additionally, the study found associations between PHEN metabolites and certain indicators, such as eGFR and proteinuria.
Article
Urology & Nephrology
Noelle E. Carlozzi, Susan F. Massengill, Howard Trachtman, Liron Walsh, Neena Singhal, Joseph M. LaVigne, Jennifer A. Miner, Hailey E. Desmond, Christian Lynam, Debbie S. Gipson
Summary: The study revealed that FSGS and MCD have a pervasive and comparable impact on patients' physical, social, and mental health-related quality of life. Participants commonly experienced symptoms such as swelling, fatigue, and pain, and discussed the impact of disease management and treatment on their daily lives.
Article
Medicine, Research & Experimental
Brenda W. Gillespie, Louis-Philippe Laurin, Dawn Zinsser, Richard Lafayette, Maddalena Marasa, Scott E. Wenderfer, Suzanne Vento, Caroline Poulton, Laura Barisoni, Jarcy Zee, Margaret Helmuth, Francesca Lugani, Margret Kamel, Peg Hill-Callahan, Stephen M. Hewitt, Laura H. Mariani, William E. Smoyer, Larry A. Greenbaum, Debbie S. Gipson, Bruce M. Robinson, Ali G. Gharavi, Lisa M. Guay-Woodford, Howard Trachtman
Summary: The study summarizes the efforts made by the Cure Glomerulonephropathy Network to optimize data quality, and underscores the importance of data quality initiatives to maintain excellence in the research measures of a multi-center observational study.
CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS
(2021)
