Review
Urology & Nephrology
Ke Sun, Qionghong Xie, Chuan-Ming Hao
Summary: This study focuses on the potential sources and mechanism of podocyte supplementation in FSGS. Parietal epithelial cells (PECs) have gained attention for their role in the progression of FSGS, as both influencing factors in glomerulosclerosis lesions and their repair abilities are being debated. Other resident glomerular cells are also significant in the progression of the disease.
Article
Chemistry, Multidisciplinary
Qiong-Dan Hu, Hong-Lian Wang, Jian Liu, Tao He, Rui-Zhi Tan, Qiong Zhang, Hong-Wei Su, Fahsai Kantawong, Hui-Yao Lan, Li Wang
Summary: Btg2 plays a pathogenic role in FSGS by promoting podocyte injury through a Smad3-dependent epithelial-mesenchymal transition pathway.
Article
Urology & Nephrology
Martina Tedesco, Federica Mescia, Isabella Pisani, Marco Allinovi, Giovanni Casazza, Lucia Del Vecchio, Marisa Santostefano, Luigi Cirillo, Francesca Ferrario, Ciro Esposito, Pasquale Esposito, Domenico Santoro, Roberta Lazzarin, Giovanni Maria Rossi, Enrico Fiaccadori, Angelo Ferrantelli, Renato Alberto Sinico, Mario Cozzolino, Maurizio Gallieni, Lino Cirami, Francesco Scolari, Augusto Vaglio, Federico Alberici
Summary: Rituximab (RTX) may be a treatment option for primary focal segmental glomerular sclerosis (FSGS), especially in steroid-dependent patients with 24-hour proteinuria <5 g and those who previously responded to RTX. The optimal long-term management for responders is unclear, with some patients experiencing sustained remission and others requiring RTX retreatment, either preemptively or after rising proteinuria.
KIDNEY INTERNATIONAL REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Lorena Longaretti, Piera Trionfini, Valerio Brizi, Christodoulos Xinaris, Caterina Mele, Matteo Breno, Elena Romano, Roberta Giampietro, Giuseppe Remuzzi, Ariela Benigni, Susanna Tomasoni
Summary: A study on a patient with familial steroid-resistant FSGS identified a PAX2 mutation, suggesting a dual effect of the mutation in the onset of FSGS. Fixing the mutation improved the functionality of podocytes, providing insight into the development of proteinuria in FSGS.
Article
Immunology
Ibrahim Batal, Pascale Khairallah, Astrid Weins, Nicole K. Andeen, Michael B. Stokes
Summary: Primary focal segmental glomerulosclerosis (FSGS) is a disease characterized by diffuse podocyte foot process effacement and nephrotic syndrome. It can recur after transplantation and is associated with immunogenetic factors. This study retrospectively investigated a cohort of kidney allograft recipients with primary FSGS and found a higher frequency of HLA-A30 antigen in patients with primary FSGS compared to healthy controls and deceased kidney donors. The study also revealed an association between donor HLA-A30 and recurrent FSGS in transplant patients.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Medicine, General & Internal
Da Woon Kim, Hakeong Jeon, Sungmi Kim, Wanhee Lee, Hyo Jin Kim, Harin Rhee, Sang Heon Song, Eun Young Seong
Summary: FSGS is a common primary glomerular disorder that can be caused by pembrolizumab, an immune checkpoint inhibitor used for advanced melanoma. This case study highlights the importance of monitoring renal function and considering kidney biopsy in patients treated with PD-1 inhibitors who develop renal injury or unexplained proteinuria. Treatment based on guidelines can lead to resolution of nephrotic syndrome in such cases.
Article
Urology & Nephrology
Fang Li, Yili Fang, Qiyuan Zhuang, Meichu Cheng, Desmond Moronge, Hao Jue, Oded Meyuhas, Xiaoqiang Ding, Zhigang Zhang, Jian-Kang Chen, Huijuan Wu
Summary: The phosphorylation of ribosomal protein S6 (rpS6) plays a crucial role in podocyte hypertrophy and loss during the pathogenesis of focal segmental glomerulosclerosis (FSGS). Inhibiting rpS6 phosphorylation can effectively attenuate podocyte hypertrophy and depletion, thereby reducing the formation of FSGS lesions.
KIDNEY INTERNATIONAL
(2022)
Article
Pediatrics
Yu-Xing Liu, Ai-Qian Zhang, Fang-Mei Luo, Yue Sheng, Chen-Yu Wang, Yi Dong, Liangliang Fan, Lv Liu
Summary: Idiopathic focal segmental glomerulosclerosis (FSGS) is a kidney disorder with genetic factors playing a dominant role. Mutations in the CD2AP gene can contribute to FSGS development, and whole-exome sequencing (WES) is helpful in identifying these genetic mutations.
FRONTIERS IN PEDIATRICS
(2021)
Article
Urology & Nephrology
Marijke Stryckers, Stefaan Van Oevelen, Priyanka Koshy, Ben Sprangers, Amaryllis H. Van Craenenbroeck
Summary: We present a case of nephrotic syndrome in a 38-year-old man shortly after initiation of guselkumab for plaque psoriasis treatment. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS). The clinical course strongly suggests drug-induced FSGS, as the nephrotic syndrome resolved after discontinuation of the drug without relapse (2 years of follow-up). To the best of our knowledge, this is the first report of FSGS lesions associated with the use of an interleukin-23 inhibitor.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Urology & Nephrology
Daniela Verzola, Michela Saio, Daniela Picciotto, Francesca Viazzi, Elisa Russo, Leda Cipriani, Annalisa Carta, Francesca Costigliolo, Gabriele Gaggero, Gennaro Salvidio, Pasquale Esposito, Giacomo Garibotto, Laura Poggi
Summary: The study found that an increased level of cell senescence, particularly the upregulation of p16(INK4A) in tubules, is an independent predictor for progression to end-stage renal disease in adult FSGS patients.
AMERICAN JOURNAL OF NEPHROLOGY
(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)
Article
Biochemistry & Molecular Biology
Hui Zhang, Qing-Qing Dong, Hua-Pan Shu, Yu-Chi Tu, Qian-Qian Liao, Li-Jun Yao
Summary: This study explored the mechanism of curcumin (CUR) against focal segmental glomerulosclerosis (FSGS) through network pharmacological methods and experimental verification. CUR was found to attenuate apoptosis, oxidative stress damage, and epithelial-mesenchymal transition (EMT) in FSGS by repressing the AKT signaling pathway.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
(2023)
Article
Urology & Nephrology
Ying Zhu, Yun Fan, Feng Xu, Shaoshan Liang, Dandan Liang, Ping Li, Yuanyuan Xia, Xiaodong Zhu, Fan Yang, Jinsong Chen, Caihong Zeng
Summary: In this study, 60.6% of TG patients were found to have concomitant FSGS, which was associated with more severe clinicopathological features and worse allograft survival. The presence of FSGS in TG patients was independently associated with higher proteinuria, serum creatinine levels, chronic glomerulopathy score, and a higher kidney allograft loss rate.
AMERICAN JOURNAL OF NEPHROLOGY
(2021)
Review
Medicine, General & Internal
Elisabeth M. Hodson, Aditi Sinha, Tess E. Cooper
Summary: This study evaluated the benefits and harms of immunosuppressive and non-immunosuppressive treatment regimens in adults with FSGS. The results showed that treatment with cyclosporin was more likely to achieve complete remission of proteinuria compared to other treatments. The effects of other treatment interventions were uncertain.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2022)
Article
Medicine, General & Internal
Ruiqiang Wang, Yunqi Wu, Dongyue An, Pupu Ma, Yuanyuan Guo, Lin Tang
Summary: This case report presents a case of acromegaly complicated with focal segmental glomerulosclerosis (FSGS). Surgery reduced the effects of GH, while low doses of glucocorticoids and immunosuppressants effectively slowed the progression of kidney disease, at least in reducing urinary protein levels.
FRONTIERS IN MEDICINE
(2021)
Review
Pediatrics
Tjessa Bondue, Lambertus van den Heuvel, Elena Levtchenko, Roland Brock
Summary: Inherited kidney diseases affect different nephron segments and can lead to kidney failure. Advances in genetic testing have increased our understanding of the molecular basis and pathophysiology of these diseases, revealing new potential therapeutic targets. RNA-based therapies, which have revolutionized molecular therapy, are now emerging in the field of kidney diseases.
PEDIATRIC NEPHROLOGY
(2023)
Article
Endocrinology & Metabolism
Koenraad Veys, Ward Zadora, Katharina Hohenfellner, Detlef Bockenhauer, Mirian C. H. Janssen, Patrick Niaudet, Aude Servais, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Nele Kanzelmeyer, Lars Pape, Elke Wuhl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Bert van den Heuvel, Elena Levtchenko
Summary: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome, which justifies the inclusion of cystinosis into newborn screening programs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Review
Pediatrics
Lale Sever, Gulseren Pehlivan, Nur Canpolat, Seha Saygili, Ayse Agbas, Ebru Demirgan, Jun Oh, Elena Levtchenko, Dymtro D. Ivanov, Rukshana Shroff
Summary: Pediatric patients on kidney replacement therapy are highly vulnerable during disasters due to limitations in dialysis treatments and shortage of medical resources. Proper measures and support are crucial to mitigate risks and provide necessary care.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Liselotte Van Loo, Karel Allegaert, Elena Levtchenko, Zhenyu Zhang, Jan A. Staessen, Anke Raaijmakers
Summary: This study investigated endothelial integrity in healthy controls and extremely low birth weight (ELBW) survivors. The results suggest that perfused boundary region (PBR) may not be a suitable biomarker for endothelial integrity in ELBW survivors, despite observations of changes in blood pressure and vascularization. These findings highlight the importance of studying and understanding the complex structure of the endothelial glycocalyx in ELBW survivors.
PEDIATRIC RESEARCH
(2023)
Article
Pathology
Madeleine R. Berendsen, Diede A. G. van Bladel, Eva Hesius, Fleur A. de Groot, Leonie I. Kroeze, Jos Rijntjes, Jeroen A. C. W. Luijks, Brigiet Hoevenaars, Altuna Halilovic, Peet Nooijen, Esther van Bladel, Susan de Jonge-Peeters, Chantal Lensen, Hans Pruijt, Ellen van der Spek, Joost S. P. Vermaat, Corine Hess, Konnie M. Hebeda, Wendy B. C. Stevens, J. Han J. M. van Krieken, Michiel van den Brand, Patricia J. T. A. Groenen, Blanca Scheijen
Summary: This study established the clonal relationship between diagnoses and recurrences of diffuse large B-cell lymphoma (DLBCL) using next-generation sequencing-based detection. Among the 50 patients with interpretable results, 86% developed clonally related relapsed disease, while 14% displayed different dominant clonotypes, confirming the occurrence of second primary DLBCL. Late recurrences should consider next-generation sequencing-based clonality testing to distinguish relapse from second primary lymphoma.
Review
Pediatrics
Agathe B. Nkoy, Pepe M. Ekulu, Veerle Labarque, Lambertus P. van den Heuvel, Elena N. Levtchenko
Summary: HIV infection remains a significant health threat globally, especially in children living in resource-limited settings. Limited access to ART in sub-Saharan Africa puts HIV-infected children at risk of developing HIVAN without appropriate treatment.
PEDIATRIC NEPHROLOGY
(2023)
Article
Oncology
G. Tjitske Los-de Vries, Phylicia Stathi, Ryanne Rutkens, Nathalie J. Hijmering, Jeroen A. C. W. Luijks, Patricia J. T. A. Groenen, Daphne de Jong, Bauke Ylstra, Margaretha G. M. Roemer
Summary: Primary and relapsed LBCL-IP have a common set of genetic alterations that support survival and proliferation, providing insight into the disease progression.
Article
Cell Biology
Eva A. M. Hesius, Lidia van Laar, Margriet Oosterveld, Annemiek B. van Spriel, Blanca Scheijen, Jan Willem Leeuwis, Henri A. M. Marres, Patricia J. T. A. Groenen, Wendy B. C. Stevens, Ellen van Der Spek, Adriaan J. C. van den Brule, Brigiet M. Hoevenaars, Konnie M. Hebeda, Michiel van den Brand
Summary: LBCL-IRF4 is a newly identified subtype of large B cell lymphoma in the 2017 revised WHO classification, initially reported in children. This study aimed to assess the frequency of IRF4 rearrangements in adult DLBCLs that need to be reclassified as LBCL-IRF4 using FISH. Among 238 DLBCL patients, six (including the index patient) were found to have IRF4 rearrangements, and their immunohistochemical profile was consistent with LBCL-IRF4. This study highlights the importance of considering LBCL-IRF4 in older patients and at different anatomical sites.
Editorial Material
Pediatrics
Ana Teixeira, Rezan Topaloglu, Pierre Cochat, Rosanna Coppo, Elena Levtchenko, Dieter Haffner, John D. Mahan, Jun Oh
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Elke De Bruyne, Lore Willem, Koen Van Hoeck, Sarah Reynaert, Sylvie Vankerckhove, Brigitte Adams, Stephanie Leroi, Laure Collard, Aline Michaux, Nathalie Godefroid, Djalila Mekahli, Noel Knops, Sunny Eloot, Ann Raes, Johan Vande Walle, Eline Van Hoecke, Evelien Snauwaert, Elena Levtchenko
Summary: This study investigated the quality of life and illness-related parental stress in children with kidney diseases. The results showed lower quality of life and higher parental stress in pediatric transplant patients compared with non-transplants. These findings highlight the importance of multidisciplinary care for children with kidney diseases, with special attention to transplant patients and their parents.
PEDIATRIC NEPHROLOGY
(2023)
Article
Oncology
Patricia J. T. A. Groenen, Michiel van den Brand, Leonie I. Kroeze, Avital L. Amir, Konnie M. Hebeda
Summary: Clonality assessment using the rearrangements of immunoglobulin and T-cell receptor genes is commonly used for diagnosing B-cell and T-cell lymphoma. The EuroClonality NGS Working Group has developed a next-generation sequencing-based clonality assay for detecting these gene rearrangements in formalin-fixed and paraffin-embedded tissues. This technology offers more sensitive detection and precise comparison of clones compared to conventional fragment-based analysis, and has potential applications in pathology for various lymphoproliferative disorders.
FRONTIERS IN ONCOLOGY
(2023)
Article
Immunology
Alessandra I. G. Buma, Femke Simmer, Marjanne den Braber-Ymker, Patricia J. T. A. Groenen
Summary: Virtual pathology education is enhanced through the use of an online learning platform called PathoDiscovery, which was first implemented in a Neoplasm course at Radboud University. This platform incorporates high-quality microscopic images, histological annotations, interactive questions, and pre-programmed feedback. Student feedback over two consecutive academic years showed positive perceptions of usability and utility, leading to an increase in the rating of the E-learning tool.
Review
Biochemistry & Molecular Biology
Tjessa Bondue, Sante Princiero Berlingerio, Lambertus van den Heuvel, Elena Levtchenko
Summary: mRNA-based therapeutics have shown great potential in vaccination and clinical trials for genetic diseases. Zebrafish embryonic disease models have proven to be valuable for drug testing and can serve as a useful intermediate step before testing in rodent models.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Electra Sofou, Elisavet Vlachonikola, Laura Zaragoza-Infante, Monika Brueggemann, Nikos Darzentas, Patricia J. T. A. Groenen, Michael Hummel, Elizabeth A. Macintyre, Fotis Psomopoulos, Frederic Davi, Anton W. Langerak, Kostas Stamatopoulos
Article
Hematology
Diede A. G. van Bladel, Wendy B. C. Stevens, Leonie I. Kroeze, Ruben A. L. de Groen, Fleur A. de Groot, Jessica L. M. van der Last-Kempkes, Madeleine R. Berendsen, Jos Rijntjes, Jeroen A. C. W. Luijks, Irina Bonzheim, Ellen van der Spek, Wouter J. Plattel, Johannes F. M. Pruijt, Susan D. P. W. M. de Jonge-Peeters, Gerjo A. Velders, Chantal Lensen, Esther R. van Bladel, Birgit Fdermann, Birgit M. Hoevenaars, Agata Pastorczak, Jutte van der Werff ten Bosch, Joost S. P. Vermaat, Peet T. G. A. Nooijen, Konnie M. Hebeda, Falko Fend, Arjan Diepstra, J. Han J. M. van Krieken, Patricia J. T. A. Groenen, Michiel van den Brand, Blanca Scheijen
Summary: This study reveals that some cHL recurrences are actually new primary cHL or TCL mimicking cHL. Molecular testing of presumed relapse in cHL is crucial for determining appropriate treatment strategies.