Article
Genetics & Heredity
Ernestine Treimer, Tugba Kalayci, Sven Schumann, Ilknur Suer, Sara Greco, Denny Schanze, Michael J. Schmeisser, Susanne J. Kuhl, Martin Zenker
Summary: GAMOS is a rare genetic condition characterized by early-onset nephrotic syndrome and microcephaly, with most cases caused by variations in genes encoding the KEOPS complex. A 3-year-old boy with progressive microcephaly was found to have a novel homozygous TP53RK missense variant, which was considered pathogenic. Experimental evidence in Xenopus laevis further supported the pathogenic role of this novel TP53RK variant in abnormal eye and head development.
Review
Pediatrics
Suhua Xu, Lan Hu, Lin Yang, Bingbing Wu, Yun Cao, Rong Zhang, Xin Xu, Haiyan Ma, Wenhao Zhou, Guoqiang Cheng, Peng Zhang, Liyuan Hu
Summary: GAMOS3 is a rare and severe genetic disease characterized by early-onset nephrotic syndrome, microcephaly, and neurological impairment. Clinical features include microcephaly, developmental delay, and proteinuria, with lower survival probability in patients with congenital NS.
FRONTIERS IN PEDIATRICS
(2022)
Article
Urology & Nephrology
Nina Mann, Slim Mzoughi, Ronen Schneider, Susanne J. Kuhl, Denny Schanze, Verena Klambt, Svjetlana Lovric, Youying Mao, Shasha Shi, Weizhen Tan, Michael Kuhl, Ana C. Onuchic-Whitford, Ernestine Treimer, Thomas M. Kitzler, Franziska Kause, Sven Schumann, Makiko Nakayama, Florian Buerger, Shirlee Shril, Amelie T. van der Ven, Amar J. Majmundar, Kristina Marie Holton, Amy Kolb, Daniela A. Braun, Jia Rao, Tilman Jobst-Schwan, Eva Mildenberger, Thomas Lennert, Alma Kuechler, Dagmar Wieczorek, Oliver Gross, Beate Ermisch-Omran, Anja Werberger, Martin Skalej, Andreas R. Janecke, Neveen A. Soliman, Shrikant M. Mane, Richard P. Lifton, Jan Kadlec, Ernesto Guccione, Michael J. Schmeisser, Martin Zenker, Friedhelm Hildebrandt
Summary: Variants in the transcriptional regulator PRDM15 are found to cause proteinuric kidney disease in six families, with four of them displaying additional features of a GAMOS-like syndrome. All variants destabilize the PRDM15 protein, with the ZNF variant also interfering with transcriptional activation. Knockdown of Prdm15 in Xenopus embryos disrupts pronephric development, and CRISPR-mediated knockout of PRDM15 in human podocytes leads to dysregulation of renal developmental genes.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Multidisciplinary Sciences
F. C. Tilley, C. Arrondel, C. Chhuon, M. Boisson, N. Cagnard, M. Parisot, G. Menara, N. Lefort, I. C. Guerrera, C. Bole-Feysot, A. Benmerah, C. Antignac, G. Mollet
Summary: The study demonstrates the interaction of WDR73 with components of Integrator complex and implicates WDR73 in regulating UsnRNA processing and transcriptional response to epidermal growth factor stimulation. Loss of WDR73 function affects the expression of genes encoding cell cycle regulatory proteins, indicating disturbances in multiple cellular pathways.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schroeder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani
Summary: Galloway-Mowat syndrome is a rare genetic disease characterized by renal and neurological symptoms, often leading to early death. This study identified a novel pathogenic gene variant in a Saudi Arabian consanguineous family and described its clinical features and underlying mechanisms.
FRONTIERS IN GENETICS
(2022)
Article
Immunology
Qing Ye, Yuzhou Li, Huihui Liu, Jianhua Mao, Hangjin Jiang
Summary: This study constructed a prediction model to accurately predict the responsiveness of nonhereditary SRNS patients to steroids. The model selected 26 clinical variables as predictive indicators and achieved an accuracy of 94.0%, which can help guide the selection of treatment methods for children with nonhereditary SRNS.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Urology & Nephrology
Yan Chen, Yan Yang, Yang Yang, Jia Rao, Haitao Bai
Summary: This article describes a rare genetic disease called GAMOS2 caused by a mutation in the LAGE3 gene. The disease is characterized by early onset nephrotic syndrome, microcephaly, growth retardation, hypotonia, and hypothyroidism. The study identified a large family with this LAGE3 mutation, with mild symptoms compared to other pathogenic genes.
Article
Neurosciences
Jing Chen, Gao-Bo Ye, Jin-Rong Huang, Min Peng, Wei-Yue Gu, Pin Xiong, Hong-min Zhu
Summary: This study aims to investigate the clinical and genetic characteristics of three unrelated GAMOS4 patients with TP53RK gene compound heterozygous mutations. The three patients showed facial abnormalities, developmental delays, microcephaly, and aberrant cerebral imaging. They did not have nephrotic syndrome and all survived beyond 3 years of age. This study provides new insights into the pathogenic TP53RK gene mutation spectrum and clinical phenotypes of GAMOS4.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Plant Sciences
Xin Li, Dong Qi, Meng-ying Wang, Kai Ji, Qun-ling Xie, Yu Wang, Shi-hao Du, Hua-ying Fan
Summary: The study revealed that the levels of suPAR and uPAR in SRNS patients can help predict glucocorticoids resistance in patients with idiopathic nephrotic syndrome (INS). The combination of TNF-alpha and IFN-gamma induces podocytes to establish a steroid resistance model in vitro. SAA can improve glucocorticoids resistance in podocytes by regulating the suPAR/uPAR-alpha v beta 3 signaling pathway, ultimately decreasing podocyte apoptosis and increasing Nephrin expression.
JOURNAL OF ETHNOPHARMACOLOGY
(2021)
Article
Medical Laboratory Technology
Hua Teng, Chen Liang, Desheng Liang, Zhuo Li, Lingqian Wu
Summary: Galloway-Mowat syndrome is an extremely rare genetic disease characterized by early-onset nephrotic syndrome, microcephaly, and neurological impairment. This study identified two novel OSGEP variants and demonstrated their functional impact, expanding the spectrum of pathogenic variants associated with the syndrome.
CLINICA CHIMICA ACTA
(2021)
Article
Pediatrics
Yung-Chieh Huang, Ming-Chin Tsai, Chi-Ren Tsai, Lin-Shien Fu
Summary: Frasier syndrome is a rare genetic disease that affects the kidneys and genitalia, causing nephrotic syndrome resistant to steroid treatment. It is caused by mutations in the splice donor site of the WT1 gene, leading to an imbalance in WT1 protein isoforms and impacting podocyte function and tumor suppression. The syndrome can also result in pseudohermaphroditism in male patients and development of gonadoblastoma in adolescence.
Article
Immunology
Wei Li, Xinyi Shou, Wenqing Xiang, Lin He, Lin Li, Haidong Fu, Jianhua Mao
Summary: This study investigated the urinary sediment mRNA levels in children with INS using high-throughput NanoString nCounter technology, and identified 70 genes that may be related to SRNS. The results showed that the mRNA level of ITGB2 in the urinary sediment was significantly lower in the non-relapse group compared to the non-frequent relapse and frequent-relapse groups, while CREBBP was significantly elevated and CYBA was significantly lowered in the SRNS group compared to the SSNS group.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Iuliana Magdalena Starcea, Roxana Alexandra Bogos, Georgiana Scurtu, Mihaela Munteanu, Radu Russu, Vasile Valeriu Lupu, Ancuta Lupu, Laura Trandafir, Ingrith Crenguta Miron, Maria Adriana Mocanu
Summary: This study analyzed the anatomopathological aspects of steroid resistant nephrotic syndrome (SRNS) and their correlation with evolution. The results showed that nearly half of NS in children are resistant to corticosteroids, but 44% of SRNS cases achieved remission. The correlation between anatomopathological aspects and evolution was not statistically significant, highlighting the need for genetic molecular analyses to determine appropriate treatment strategies.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Federica Casiraghi, Marta Todeschini, Manuel Alfredo Podesta, Marilena Mister, Barbara Ruggiero, Matias Trillini, Camillo Carrara, Olimpia Diadei, Alessandro Villa, Ariela Benigni, Giuseppe Remuzzi
Summary: Immune dysregulation plays a key role in the pathogenesis of steroid-dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS). However, no major B- or T-cell alterations have been described for adults, unlike in pediatric cases. This study found that patients with SDNS/FRNS have expansion of memory B cells and reduced memory Tregs. The levels of CD45RO(+) Tregs at baseline may help predict which patients will achieve sustained remission following rituximab infusion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Hong-Li Guo, Ling Li, Ze-Yue Xu, Xia Jing, Ying Xia, Jin-Chun Qiu, Xing Ji, Feng Chen, Jing Xu, Fei Zhao
Summary: Steroid-resistant nephrotic syndrome is a common cause of chronic kidney disease in children, with complex etiology and lack of standardized treatment. Recent genomic research has shed light on the molecular mechanisms and genetic polymorphisms of the disease, aiming to improve the management of children with this syndrome.
CURRENT PHARMACEUTICAL DESIGN
(2021)
Article
Transplantation
Sergio C. Lopez-Garcia, Mallory L. Downie, Ji Soo Kim, Olivia Boyer, Stephen B. Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, Ben C. Reynolds, Stephane Decramer, Martine Besouw, Manel Perello Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurelie Hummel, Claire Dossier, John A. Sayer, Martin Konrad, Mandy G. Keijzer-Veen, Atif Awan, Biswanath Basu, Dominique Chauveau, Leire Madariaga, Linda Koster-Kamphuis, Monica Furlano, Miriam Zacchia, Pierluigi Marzuillo, Yincent Tse, Ismail Dursun, Ayse Seda Pinarbasi, Despoina Tramma, Ewout J. Hoorn, Ibrahim Gokce, Kathleen Nicholls, Loai A. Eid, Lisa Sartz, Michael Riordan, Nakysa Hooman, Nikoleta Printza, Olivier Bonny, Pedro Arango Sancho, Raphael Schild, Rajiv Sinha, Stefano Guarino, Victo Martinez Jimenez, Lidia Rodriguez Pena, Hendrica Belge, Olivier Devuyst, Tanja Wlodkowski, Francesco Emma, Elena Levtchenko, Nine V. A. M. Knoers, Daniel G. Bichet, Franz Schaefer, Robert Kleta, European NDI Consortium, Detlef Bockenhauer
Summary: The study of a large NDI cohort showed overall favorable outcomes with normal adult height and mild to moderate chronic kidney disease. However, lower educational achievement and the presence of urological and mental health problems in over half of the patients were noted.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Pharmacology & Pharmacy
Camille de Truchis, Naim Bouazza, Frantz Foissac, Marina Charbit, Laurene Dehoux, Gabrielle Lui, Megane Ribot, Nelly Briand, Yi Zheng, Jean-Marc Treluyer, Olivia Boyer
Summary: This study aimed to build a population pharmacokinetics model of free prednisolone in paediatric kidney transplant recipients, identify covariates accounting for interindividual variability of pharmacokinetics parameters, and investigate drug exposure-safety relationships. The results showed that bodyweight and ciclosporin cotreatment influenced the pharmacokinetics of prednisolone, and high blood pressure and new onset diabetes after transplantation were associated with daily prednisolone exposure.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Article
Genetics & Heredity
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
Summary: Whole-genome sequencing allows identification of multiple variants in non-coding regions, but the interpretation of these variants is complicated due to their large number. This study compares three different tools, including a newly developed targeted RNA sequencing, to explore the splicing effect of intronic variations in the NPHS2 gene, which is implicated in a genetic disorder.
Article
Biochemistry & Molecular Biology
Jean-Baptiste Domergue, Cinzia Bocca, Rosine De Paepe, Guy Lenaers, Anis M. Limami, Guillaume Tcherkez
Summary: Disruption of mitochondrial complex I (CI) has been found to cause multiple changes in cellular lipids, including leaf, pollen, and seed lipids. This suggests that mitochondrial homeostasis plays a crucial role in regulating the whole cellular lipidome through specific signaling pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Olivia Boyer, Geraldine Mollet, Guillaume Dorval
Summary: Genetic studies have identified many genes involved in the development of hereditary podocytopathies associated with steroid-resistant nephrotic syndrome (SRNS). Syndromic SRNS can be accompanied by neurological disorders, and there is a link between podocyte and neuronal cells at both morphological and functional levels. Variations in genes encoding proteins in podocytes and neurons contribute to the phenotypes associating renal lesions with proteinuria and neurological disorders. This review focuses on the genetic syndromes that associate proteinuria and neurological diseases and presents the latest advances in understanding these neuro-renal disorders.
M S-MEDECINE SCIENCES
(2023)
Editorial Material
Medicine, Research & Experimental
Guillaume Dorval, Olivia Boyer
M S-MEDECINE SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Daniel Yoo, Valentin Goutaudier, Gillian Divard, Juliette Gueguen, Brad C. Astor, Olivier Aubert, Marc Raynaud, Zeynep Demir, Julien Hogan, Patricia Weng, Jodi Smith, Rouba Garro, Bradley A. Warady, Rima S. Zahr, Marta Sablik, Katherine Twombley, Lionel Couzi, Thierry Berney, Olivia Boyer, Jean-Paul Duong-Van-Huyen, Magali Giral, Alaa Alsadi, Pierre A. Gourraud, Emmanuel Morelon, Moglie Le Quintrec, Sophie Brouard, Christophe Legendre, Dany Anglicheau, Jean Villard, Weixiong Zhong, Nassim Kamar, Oriol Bestard, Arjang Djamali, Klemens Budde, Mark Haas, Carmen Lefaucheur, Marion Rabant, Alexandre Loupy
Summary: Researchers developed a decision-support system based on an algorithm to automatically assign kidney allograft diagnoses, which successfully reclassified rejection cases and improved long-term allograft outcomes.
Article
Pediatrics
Aleksandra Zurowska, Magdalena Drozynska-Duklas, Rezan Topaloglu, Antonia Bouts, Olivia Boyer, Mohan Shenoy, Marina Vivarelli
Summary: There is limited information on the association between rituximab and hypogammaglobulinemia (HGG) in children with idiopathic nephrotic syndrome (INS). A survey showed that most pediatric nephrology units have different practices in recognizing and managing RTX-associated HGG and its morbidity and mortality. HGG was observed in 80% of children with severe infections, highlighting the need for mandatory screening for HGG in children treated with RTX.
PEDIATRIC NEPHROLOGY
(2023)
Article
Endocrinology & Metabolism
Rahma Felhi, Lamia Sfaihi, Majida Charif, Fakher Frikha, Nissaf Aoiadni, Thouraya Kamoun, Guy Lenaers, Faiza Fakhfakh
Summary: Leigh syndrome (LS) and Leigh-like spectrum are common mitochondrial disorders in infants, caused by pathogenic variants in SLC carriers. A homozygous c.1264 A > G (p.T422A) variant in SLC19A3 was identified in a patient with LS from a consanguineous Tunisian family. This variant affects vitamin-B1 transport, induces mtDNA depletion, and reduces the expression of oxidative stress enzymes, contributing to the LS phenotype.
METABOLIC BRAIN DISEASE
(2023)
Article
Cell Biology
Wen Y. Ding, Valeryia Kuzmuk, Sarah Hunter, Abigail Lay, Bryony Hayes, Matthew Beesley, Ruth Rollason, Jennifer A. Hurcombe, Fern Barrington, Catrin Masson, William Cathery, Carl May, Jack Tuffin, Timothy Roberts, Geraldine Mollet, Colin J. Chu, Jenny McIntosh, Richard J. Coward, Corinne Antignac, Amit Nathwani, Gavin I. Welsh, Moin A. Saleem
Summary: Gene therapy using AAV vector has successfully addressed the challenges of kidney diseases, showing particular success in targeting monogenic diseases in other organs. By utilizing AAV-LK03 and AAV 2/9, gene therapy has been able to rescue genetic defects and improve kidney disease in human and mouse models, establishing the podocyte as a viable target for gene therapy.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Urology & Nephrology
Nathalie Biebuyck, Camille Destombes, Richa Prakash, Olivia Boyer
Summary: Primary hyperoxaluria type 1 is a rare genetic disorder caused by mutations in the AGXT gene, leading to the accumulation of oxalate in the kidneys. Liver-kidney transplantation is the main treatment option, but lumasiran, an RNA-interfering therapy, has shown positive outcomes in recent studies.
JOURNAL OF NEPHROLOGY
(2023)
Proceedings Paper
Computer Science, Interdisciplinary Applications
Sophie Quennelle, Maxime Douillet, Lisa Friedlander, Olivia Boyer, Antoine Neuraz, Anita Burgun, Nicolas Garcelon
Summary: In medical research, traditional data collection methods such as browsing patient files have been shown to have biases, errors, human labor and costs. The study proposes a semi-automated system that can extract various types of data and pre-fill clinical research forms based on rules. A cross-testing experiment comparing semi-automated and manual data collection showed that the Smart Data Extractor reduced form completion time and errors.
CARING IS SHARING-EXPLOITING THE VALUE IN DATA FOR HEALTH AND INNOVATION-PROCEEDINGS OF MIE 2023
(2023)
Review
Medicine, General & Internal
Marina Vivarelli, Keisha Gibson, Aditi Sinha, Olivia Boyer
Summary: Idiopathic nephrotic syndrome is the most common glomerular disease in children, and corticosteroids are the main treatment. The response to steroids is a key prognostic factor. Multidrug resistant nephrotic syndrome may lead to kidney failure and relapse after kidney transplant.
Article
Urology & Nephrology
Marwa Chbihi, Laurye-Anne Eveillard, Quentin Riller, Romain Brousse, Romain Berthaud, Pierre Quartier, Remi Salomon, Marina Charbit, Marina Avramescu, Nathalie Biebuyck, Laurene Dehoux, Nicolas Garcelon, Jean-Paul Duong-Van-Huyen, Brigitte Bader-Meunier, Olivia Boyer
Summary: This study compared the efficacy and tolerance of CYC and MMF as induction therapy for class IV LN in children. The results showed no significant difference in complete remission and relapse rates between the two groups, as well as in the number of treatment-related adverse events. However, long-term adverse events such as infertility could not be systematically evaluated in this retrospective pediatric study.
JOURNAL OF NEPHROLOGY
(2023)