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
Medicine, General & Internal
Xiujuan Zhu, Yanqin Zhang, Zihua Yu, Li Yu, Wenyan Huang, Shuzhen Sun, Yingjie Li, Mo Wang, Yongzhen Li, Liangzhong Sun, Qing Yang, Fang Deng, Xiaoshan Shao, Ling Liu, Cuihua Liu, Yuanhan Qin, Shipin Feng, Hongtao Zhu, Fang Yang, Weimin Zheng, Wanqi Zheng, Rirong Zhong, Ling Hou, Jianhua Mao, Fang Wang, Jie Ding
Summary: This study analyzed genotype-phenotype correlations in a cohort of 283 pediatric patients with SRNS in China. The most frequently detected mutations were in the WT1, NPHS1, NPHS2, and ADCK4 genes, which accounted for 73.6% of patients with monogenic SRNS. Some patients carried mutations in the ADCK4 gene, which is involved in the coenzyme Q10 biosynthesis pathway and may be related to SRNS. The findings of this study provide important information for the diagnosis, treatment, and prognosis of SRNS.
FRONTIERS IN MEDICINE
(2022)
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
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
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
Urology & Nephrology
Claire Dossier, Stephanie Bonneric, Veronique Baudouin, Theresa Kwon, Benjamin Prim, Alexandra Cambier, Anne Couderc, Christelle Moreau, Georges Deschenes, Julien Hogan
Summary: This retrospective study reported the use of low-dose obinutuzumab in children with steroid-dependent or frequently relapsing nephrotic syndrome. The results showed that all participants achieved B-cell depletion, with a median duration of 8.3 months. At 12 and 24 months, 92% and 68% of patients, respectively, were in sustained remission. Mild infusion reactions and neutropenia were observed as adverse events. The study suggested that low-dose obinutuzumab is a promising treatment option for these patients.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Daojing Ying, Wangkai Liu, Lizhi Chen, Liping Rong, Zhilang Lin, Sijia Wen, Hongjie Zhuang, Jinhua Li, Xiaoyun Jiang
Summary: Secondary steroid-resistant nephrotic syndrome (SRNS) refers to the condition when patients with initial steroid-sensitive nephrotic syndrome develop steroid resistance in subsequent relapses. The study found that no response to intensified immunosuppression (IIS) was an independent predictor for end-stage renal disease (ESRD) in patients with secondary SRNS.
KIDNEY INTERNATIONAL REPORTS
(2021)
Review
Pediatrics
Jiwon M. Lee, Andreas Kronbichler, Jae Il Shin, Jun Oh
Summary: Steroid-resistant nephrotic syndrome is a challenging disease viewed as having immune-based and monogenic etiologies. Treatment strategies are individualized and vary among specialized centers. Besides rituximab, other novel monoclonal antibodies are emerging as treatment options, but their efficacy still needs to be further studied.
PEDIATRIC NEPHROLOGY
(2021)
Article
Pediatrics
Anna Francis, Chanel Prestidge, Joshua Kausman, Amelia Le Page, Nicholas Larkins, Hugh McCarthy
Summary: This study found that children with secondary steroid-resistant nephrotic syndrome have a higher risk of recurrence post-transplantation and may not respond well to treatment. History of atopy and hypoalbuminemia at the time of transplant might be novel risk factors for recurrence. Further research is needed to determine if secondary steroid resistance is associated with poorer transplant outcomes.
PEDIATRIC NEPHROLOGY
(2022)
Article
Medicine, Research & Experimental
Katarzyna Zaorska, Piotr Zawierucha, Monika Swierczewska, Danuta Ostalska-Nowicka, Jacek Zachwieja, Michal Nowicki
Summary: The study successfully predicted steroid resistance and dependence in children with nephrotic syndrome by analyzing various genetic variants and biochemical parameters, identifying strong predictors. These predictions could aid in determining appropriate treatment prior to drug administration.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Urology & Nephrology
Daojing Ying, Nannan Yu, Zhilang Lin, Lizhi Chen, Liping Rong, Jingyi Wu, Mengjie Jiang, Xiaoyun Jiang
Summary: This study aimed to investigate the incidence of relapse and FR/SDNS in Chinese children with SSNS and develop clinical prediction models for relapse and FR/SDNS. A retrospective cohort study involving 339 newly onset SSNS patients was conducted, and the incidence of relapse and FR/SDNS was estimated. Prediction models were constructed using Cox proportional-hazards regression. The study found that the first relapse and FR/SDNS mainly occurred within the first 2 years after initial SSNS onset. The prediction model for relapse performed poorly, while the prediction model for FR/SDNS showed potential usefulness.
Article
Urology & Nephrology
Luyan Zhang, Fei Zhao, Guixia Ding, Ying Chen, Sanlong Zhao, Qiuxia Chen, Yugen Sha, Ruochen Che, Songming Huang, Bixia Zheng, Aihua Zhang
Summary: In this study, whole exome sequencing was used to explore the genetic causes of steroid resistant nephrotic syndrome (SRNS) in children. The results showed that causative variants were found in 23.68% of the patients in our cohort, with 68.75% of the identified variants being novel. It is suggested that all children with SRNS undergo genetic testing, especially those with early onset and extrarenal phenotypes.
Article
Pediatrics
Maryam Najafi, Korbinian M. Riedhammer, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schuele, Sophie Schroda, Thomas Meitinger, Jasmina Comic, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Koettgen, Rolf Backofen, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts
Summary: Steroid resistant nephrotic syndrome (SRNS) is a common renal disease in children and adolescents, and genetic testing in consanguineous Iranian families identified that variants in NPHS1 and NPHS2 genes were the most common causes. Next-generation sequencing-based genetic screening is a more effective method to identify variants underlying SRNS.
FRONTIERS IN PEDIATRICS
(2022)
Article
Urology & Nephrology
Biswanath Basu, Stella Erdmann, Anja Sander, Tapan Kumar Sinha Mahapatra, Jan Meis, Franz Schaefer
Summary: In the RITURNS trial, single-course rituximab was found to be more effective than maintenance tacrolimus in preventing relapses in children with SDNS. However, the therapeutic effect of rituximab diminished in the second year post-exposure and was less effective as a second line therapy compared to first-line therapy. Maintenance MMF following rituximab induced long-term disease remission. Higher grade 2 adverse event rates were observed with rituximab compared to tacrolimus.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Pediatrics
Hongbo Xiao, Friedhelm Hildebrandt
Summary: By analyzing patients with SRNS using WES, we identified genetic mutations causing nephritic syndrome in these patients, providing strong evidence for the importance of clinical genetic testing in patients with proteinuria.
PEDIATRIC NEPHROLOGY
(2022)
Editorial Material
Pediatrics
Gulsah Kaya Aksoy, Mustafa Koyun, Elif Comak, Adil Boz, Sema Akman
PEDIATRIC NEPHROLOGY
(2023)
Editorial Material
Pediatrics
Gulsah Kaya Aksoy, Mustafa Koyun, Elif Comak, Adil Boz, Sema Akman
PEDIATRIC NEPHROLOGY
(2023)
Letter
Pediatrics
Seha Saygili, Salim Caliskan, Fatih Ozaltin
PEDIATRIC NEPHROLOGY
(2023)
Article
Audiology & Speech-Language Pathology
Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin, Rezan Topaloglu
Summary: This study aimed to determine the characteristics of hearing loss in patients with dRTA caused by different gene mutations. The results showed that LVAS is common in dRTA patients and may influence the type and severity of hearing loss. Therefore, regular audiological follow-up is essential for early detection of possible late-onset or progressive hearing loss in dRTA patients.
AUDIOLOGY AND NEURO-OTOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Susanna Negrisolo, Elisa Benetti
Summary: PAX2 is a key transcription factor involved in kidney development, as well as the development of the eye, ear, CNS, and genitourinary tract. Mutations in PAX2 are associated with papillorenal syndrome and a range of kidney malformations and diseases. In this study, two new PAX2 sequence variations were identified, and the frequency of PAX2-related disorders in a cohort of pediatric patients with congenital abnormalities of the kidney and urinary tract was determined to be 5.8%.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Nicola Bertazza Partigiani, Susanna Negrisolo, Andrea Carraro, Diana Marzenta, Elisabetta Manaresi, Giorgio Gallinella, Luisa Barzon, Elisa Benetti
Summary: Viral infections can lead to transplant dysfunction and may play a role in rejection. Analysis of protocol biopsies in 106 children at different time points after transplantation showed an increased prevalence of intrarenal viral infection between 6 and 12 months. Specifically, Parvovirus B19 infection was associated with antibody-mediated rejection. Monitoring and treatment of Parvovirus B19 infection in the early post-transplant period is important.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Fatma Aydin, Zeynep Birsin Ozcakar, Pinar Ozge Avar Aydin, Ece Mekik Akar, Nilgun Cakar
Summary: This study aimed to evaluate the frequency of exertional leg pain in pediatric FMF patients and analyze its association with other characteristics of FMF. It was found that patients with exertional leg pain had higher colchicine dosage, higher frequency of arthritis and arthralgia, higher disease severity scores, and a stronger association with the M694V mutation.
POSTGRADUATE MEDICINE
(2023)
Article
Endocrinology & Metabolism
Magnus Wolf, Martin Heni, Anita M. Hennige, Katrin Sippel, Alexander Cegan, Lina Maria Serna Higuita, Peter Martus, Hans-Ulrich Haering, Andreas Fritsche, Andreas Peter
Summary: Ghrelin hormone is related to body weight and insulin resistance. Fasting ghrelin levels are negatively correlated with body weight and positively correlated with insulin sensitivity. Ghrelin concentrations change after the glucose tolerance test. These findings suggest that modulation of ghrelin acylation and unacylation could be a potential treatment for obesity.
INTERNATIONAL JOURNAL OF OBESITY
(2023)
Article
Urology & Nephrology
Esra Karabag Yilmaz, Memnune Nur Cebi, Iremnaz Karahan, Seha Saygili, Ruveyda Gulmez, Ebru Burcu Demirgan, Cansu Durak, Fatih Aygun, Fatih Ozaltin, Salim Caliskan, Nur Canpolat
Summary: This report describes two cases of thrombotic microangiopathy (TMA) associated with COVID-19, one of which was successfully treated with eculizumab. PCR tests confirmed SARS-CoV-2 infection in both cases, and laboratory results showed typical signs of TMA. No known cause for TMA was found in either case.
Article
Pediatrics
Iryna Akdemir, Ece Mekik Akar, Songul Yilmaz, Nilgun Cakar, Suat Fitoz, Zeynep Birsin Ozcakar
Summary: Nutcracker syndrome (NCS) is a condition characterized by compression of the left renal vein (LRV), leading to various symptoms and signs. This study retrospectively evaluated data from 123 pediatric NCS patients and found that conservative management was the preferred treatment approach.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Daniele Dona, Luz Yadira Bravo-Gallego, Esteban Frauca Remacha, Mara Cananzi, Andrea Gastaldi, Juan Torres Canizalez, Xavier Stephenne, Florence Lacaille, Caroline Lindemans, Elisabetta Calore, Nathalie Galea, Elisa Benetti, Edith Nachbaur, Ana Rita Sandes, Ana Teixeira, Sandra Ferreira, Maja Klaudel-Dreszler, Oanez Ackermann, Olivia Boyer, Laura Espinosa, Luis Garcia Guereta, Marco Sciveres, Bjoern Fischler, Nicolaus Schwerk, Mette Neland, Emanuele Nicastro, Luca Dello Strologo, Jacek Toporski, Inga Vainumae, Jelena Rascon, Vaidotas Urbonas, Teresa del Rosal, Eduardo Lopez-Granados, Giorgio Perilongo, Alastair Baker, Paloma Jara Vega
Summary: This study evaluates the attitudes and practices of pediatric transplant centers towards active immunization and highlights inconsistent immunization coverage among European pediatric transplant recipients. The findings emphasize the need for shared evidence-based immunization protocols and further research.
PEDIATRIC TRANSPLANTATION
(2023)
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)
Article
Biochemistry & Molecular Biology
Christian Joerg Rustenbach, Stefan Reichert, Medhat Radwan, Isabelle Doll, Migdat Mustafi, Attila Nemeth, Spiros Lukas Marinos, Rafal Berger, Hardy Baumbach, Monika Zdanyte, Helene Haeberle, Tulio Caldonazo, Ibrahim Saqer, Shekhar Saha, Philipp Schnackenburg, Ilija Djordjevic, Ihor Krasivskyi, Stefanie Wendt, Elmar Kuhn, Lina Maria Serna Higuita, Torsten Doenst, Christian Hagl, Thorsten Wahlers, Rodrigo Sandoval Boburg, Christian Schlensak
Summary: This study compared postoperative outcomes and 30-day mortality in patients with reduced ejection fraction who underwent isolated coronary artery bypass grafting with and without the use of cardiopulmonary bypass. The results showed that while the two groups had similar 30-day/in-hospital mortality rates, patients who underwent OPCAB surgery had improved postoperative outcomes, including shorter mechanical ventilation durations, shorter ICU stays, and reduced incidences of ECLS therapy, acute kidney injury, delirium, and sepsis.
Article
Biochemistry & Molecular Biology
Monica Locatelli, Daniela Rottoli, Rayan Mahmoud, Mauro Abbate, Daniela Corna, Domenico Cerullo, Susanna Tomasoni, Giuseppe Remuzzi, Carlamaria Zoja, Ariela Benigni, Daniela Macconi
Summary: In BTBR ob/ob mice with type 2 diabetic nephropathy, peritubular capillaries show endothelial cell abnormalities and basement membrane thickening. Remodeling and focal loss of the endothelial glycocalyx were observed in diabetic kidneys, and ACEi treatment preserved the glycocalyx and attenuated the ultrastructural abnormalities of peritubular capillaries.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Urology & Nephrology
Silvia Giovanella, Andrea Pasini, Giulia Ligabue, Francesca Testa, Giacomo Mori, Enrico Tagliafico, Riccardo Magistroni
Summary: Renal coloboma syndrome (RCS) is a disease characterized by kidney and ocular anomalies caused by mutations in the paired box 2 (PAX2) gene. We report a case of a newborn with kidney hypodysplasia and a family history of kidney disease. Molecular characterization identified a PAX2 variant that was found in both the mother and newborn, suggesting extreme caution in analyzing familial traits.