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JOURNAL ARTICLE
Deepika Yadav, Mukta Mantan, Bhawna Mahajan
BACKGROUND: While the utility of beta-2 microglobulin (β2M) has been explored in various renal conditions to identify tubulointerstitial damage, it has not been adequately studied in nephrotic syndrome. The primary objective of the study was to compare urinary β2M levels in children with steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS) in disease remission. MATERIALS AND METHODS: This cross-sectional study was done at a tertiary care hospital between April 2019 and March 2020...
2024: Indian Journal of Nephrology
#2
Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska
Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance is observed. The most frequent histologic kidney feature of steroid-resistant nephrotic syndrome (SRNS) is focal segmental glomerulosclerosis (FSGS). Genetic testing has become a valuable diagnostic tool in defining the etiology of SRNS, leading to the identification of a genetic cause. The TRIM8 gene is expressed in various tissues, including kidney cells and the central nervous system (CNS)...
April 19, 2024: International Journal of Molecular Sciences
#3
COMPARATIVE STUDY
Xueting Cheng, Jiahuan Chen, Xueying Yang, Han Chan, Xia Yang, Jia Jiao, Anshuo Wang, Gaofu Zhang, Xuelan Chen, Xiaoqin Li, Mo Wang, Baohui Yang, Haiping Yang, Qiu Li
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in the clinical practice of SRNS in children. METHODS: Three hundred thirty-two children were diagnosed with SRNS, and all children underwent genetic testing, including gene panels and/or whole-exome/genome sequencing (WES/WGS), during treatment. We analysed the relationship between clinical manifestation and genotype, and compared different genetic testing methods' detection rates and prices...
April 23, 2024: Italian Journal of Pediatrics
#4
JOURNAL ARTICLE
Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang, Jianhua Zhou
BACKGROUND: The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their childhood. More clinical and genetic data from these patients are needed to characterize their genotype-phenotype relationships and elucidate the role of nucleoporins in SRNS. METHODS: Four patients of SRNS carrying biallelic variants in the NUP93, NUP107 and NUP160 genes were presented...
April 22, 2024: Italian Journal of Pediatrics
#5
JOURNAL ARTICLE
Yutaro Koide, Naoya Nagai, Sou Adachi, Masayuki Ito, Mariko Kawamura, Makoto Ito, Fumitaka Ito, Yurika Shindo, Takahiro Aoyama, Hidetoshi Shimizu, Shingo Hashimoto, Hiroyuki Tachibana, Takeshi Kodaira
AIM: We aimed to investigate the impact of concurrent antibody-drug conjugates (ADC) and radiotherapy on symptomatic radiation necrosis (SRN) in breast cancer patients with brain metastases (BM). METHODS: This multicenter retrospective study uses four institutional data. Eligibility criteria were histologically proven breast cancer, diagnosed BM with gadolinium-enhanced MRI, a Karnofsky performance status of 60 or higher, and radiotherapy for all BM lesions between 2017 and 2022...
April 22, 2024: Journal of Neuro-oncology
#6
JOURNAL ARTICLE
Hala Wannous
BACKGROUND: Idiopathic nephrotic syndrome (INS) is the most common glomerular disease in children. We performed this study to report histopathological findings, the correlation between clinical and histopathological features, and the response to steroids and other immunosuppressive drugs and outcomes in Syrian children with INS. METHODS: A single-center retrospective observational cohort study was conducted at Children's University Hospital in Damascus, and included all patients aged 1-14 years, admitted from January 2013 to December 2022, with INS and who underwent kidney biopsy...
April 8, 2024: Pediatric Nephrology
#7
JOURNAL ARTICLE
Gongping Zhao, Jitong Li, Yujie Liu, Guangbo Li, Yanmin Zhang, Shufeng Zhang, Cuihua Liu
OBJECTIVE: To summarize the clinical and genetic characteristics, treatment and prognosis of four children with Steroid-resistant nephrotic syndrome (SRNS) due to variants of TRPC6 gene. METHODS: Clinical data of four children with SRNS admitted to Children's Hospital Affiliated to Zhengzhou University between May 2020 and August 2022 were collected. Peripheral blood samples were collected from the children and their parents, and whole exome sequencing was carried out...
April 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#8
JOURNAL ARTICLE
Florian Buerger, Lea M Merz, Ken Saida, Seyoung Yu, Daanya Salmanullah, Katharina Lemberg, Nils D Mertens, Bshara Mansour, Caroline M Kolvenbach, Kirollos Yousef, Alina Braun, Gijs A C Franken, Nicole Endlich, Ronen Schneider, Shrilee Shril, Friedhelm Hildebrandt
Steroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podocyte have been assessed as a means for gene replacement therapy...
March 14, 2024: American Journal of Physiology. Renal Physiology
#9
JOURNAL ARTICLE
Nannan Yu, XiaoJun Ouyang, Jie Li, Jie Gao, Shuhan Zeng, Hongjie Zhuang, Mengjie Jiang, Yuxin Pei, Xiaoyun Jiang
BACKGROUND: Acute kidney injury (AKI) is increasingly prevalent in children with nephrotic syndrome (NS). It is associated with adverse outcomes in NS, especially steroid-resistant nephrotic syndrome (SRNS). The incidence, risk factors and outcomes of AKI in secondary SRNS remain undefined. The main objectives of this study were to determine the risk factors and prognosis of AKI in hospitalized children with secondary SRNS. MATERIAL AND METHODS: This retrospective study was conducted from January 2014 to December 2019, involving 172 hospitalizations with secondary SRNS admitted to the First Affiliated Hospital of Sun Yat-sen University...
December 2024: Renal Failure
#10
JOURNAL ARTICLE
Mercedes Lopez-Gonzalez, Gema Ariceta
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. DDS is classically defined by the triad of steroid-resistant nephrotic syndrome (SRNS) onset in the first year of life, disorders of sex development (DSD), and a predisposition to Wilms tumor (WT). Currently, a paradigm shift acknowledges a diverse spectrum of presentations beyond traditional syndromic definitions...
February 7, 2024: Pediatric Nephrology
#11
JOURNAL ARTICLE
Luyan Zhang, Fei Zhao, Guixia Ding, Ying Chen, Sanlong Zhao, Qiuxia Chen, Yugen Sha, Ruochen Che, Songming Huang, Bixia Zheng, Aihua Zhang
INTRODUCTION: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of end-stage kidney disease in children, mostly associated with focal segmental glomerulosclerosis (FSGS). Advances in genomic science have enabled the identification of causative variants in 20-30% of SRNS patients. METHODS: We used whole exome sequencing to explore the genetic causes of SRNS in children. Totally, 101 patients with SRNS and 13 patients with nephrotic proteinuria and FSGS were retrospectively enrolled in our hospital between 2018 and 2022...
February 2024: Kidney Diseases
#12
JOURNAL ARTICLE
Ross Tollaksen, Randall D Craver, Ihor V Yosypiv
Steroid resistant nephrotic syndrome (SRNS) accounts for 30% of all cases of nephrotic syndrome (NS) in children and frequently leads to end stage kidney disease (ESKD). About 30% of children with SRNS demonstrate causative mutations in podocyte- associated genes. Early identification of genetic forms of SRNS is critical to avoid potentially harmful immunosuppressive therapy. A 2-year-old male patient with NS and no family history of renal disease did not respond to 4-week steroid treatment. Kidney biopsy demonstrated mesangial proliferative glomerulopathy with basement membrane dysmorphism...
January 30, 2024: Pediatric and Developmental Pathology
#13
JOURNAL ARTICLE
Yoko Sobue, Kentaro Nishi, Koichi Kamei, Yuta Inoki, Kei Osaka, Tomoya Kaneda, Misaki Akiyama, Mai Sato, Masao Ogura, Kenji Ishikura, Akira Ishiguro, Shuichi Ito
BACKGROUND: Despite adverse events associated with the long-term use of immunosuppressants, their long-term discontinuation remains challenging in children with idiopathic nephrotic syndrome. Relapse and resumption of immunosuppressants after discontinuation and associated risk factors were analyzed. METHODS: This single-center retrospective cohort study included children with frequently relapsing/steroid-dependent nephrotic syndrome (FRNS/SDNS) or steroid-resistant nephrotic syndrome (SRNS) who initiated immunosuppressant treatment between 2010 and 2020...
January 25, 2024: Pediatric Nephrology
#14
JOURNAL ARTICLE
Ganesh M Krishna, Aashima Dabas, Mukta Mantan, Akshay Kumar M, Binita Goswami
BACKGROUND: Children with nephrotic syndrome are exposed to alternate day steroids for prolonged periods and this poses the need for evaluation of adrenocortical suppression using the adrenocorticotropic hormone (ACTH) stimulation test. METHODS: This cross-sectional study enrolled children (2-18 years) both with steroid sensitive nephrotic syndrome (SSNS) (n = 27) and steroid resistant (SRNS) (n = 25); those on daily prednisolone or having serious bacterial infections or hospitalized were excluded...
January 23, 2024: Pediatric Nephrology
#15
JOURNAL ARTICLE
Yuanyuan Li, Chan Xu, Feng Zhao, Qinghong Liu, Xiaojian Qiu, Min Li, Yonghui Yang, Shentong Yu, Huajuan Tong, Lifang Zhang, Bing Chen, Lijuan Qu, Zihua Yu
More than 60 monogenic genes mutated in steroid-resistant nephrotic syndrome (SRNS) have been identified. Our previous study found that mutations in nucleoporin 160 kD (NUP160) are implicated in SRNS. The NUP160 gene encodes a component of the nuclear pore complex. Recently, two siblings with homozygous NUP160 mutations presented with SRNS and a nervous system disorder. However, replication of nephrotic syndrome (NS)-associated phenotypes in a mammalian model following loss of Nup160 is needed to prove that NUP160 mutations cause SRNS...
January 15, 2024: Human Molecular Genetics
#16
Soumya Patil, Mahantesh V Patil, Apoorva Bagalkotkar, Shashikala Wali
BACKGROUND: Primary membranous nephropathy is a rare presentation in children. Patients unresponsive to steroids and experiencing frequent relapse are considered steroid-resistant. They often require complex treatment regimens consisting of immunosuppressants like cyclophosphamide, tacrolimus, and cyclosporin A. CASE: In the present case, a 5-year-old child was suffering from steroid-resistant nephrotic syndrome for the past 10 months. He was initially treated with prednisolone 20mg but was subsequently found to be steroid-resistant...
January 9, 2024: Current Drug Safety
#17
Georgia Malakasioti, Daniela Iancu, Anastasiia Milovanova, Alexey Tsygin, Tomoko Horinouchi, China Nagano, Kandai Nozu, Koichi Kamei, Shuichiro Fujinaga, Kazumoto Iijima, Hee Gyung Kang, Rajiv Sinha, Biswanath Basu, William Morello, Giovanni Montini, Aoife Waters, Olivia Boyer, Zeynep Yürük Yıldırım, Sibel Yel, İsmail Dursun, Hugh J McCarthy, Marina Vivarelli, Larisa Prikhodina, Martine T P Besouw, Eugene Yu-Hin Chan, Wenyan Huang, Markus J Kemper, Sebastian Loos, Chanel Prestidge, William Wong, Galia Zlatanova, Rasmus Ehren, Lutz T Weber, Hassib Chehade, Nakysa Hooman, Marcin Tkaczyk, Małgorzata Stańczyk, Michael Miligkos, Kjell Tullus
No abstract text is available yet for this article.
January 2024: Kidney International
#18
JOURNAL ARTICLE
Harshith Gowda, Anmol Bhatia, Karalanglin Tiewsoh, Akshay Kumar Saxena, Lesa Dawman, Madhav Bansal, Kushaljit Singh Sodhi
PURPOSE: To assess the renal elasticity values using (SWE) and correlate the values with steroid sensitivity to distinguish between steroid-resistant nephrotic syndrome (SRNS) and steroid-sensitive nephrotic syndrome (SSNS) in children. METHODS: In this IRB-approved cross-sectional study, 83 children (4-14 years) diagnosed with nephrotic syndrome were included from July 2021 to December 2022. SWE measurements were done for each kidney's upper pole, interpolar region, and lower pole...
December 27, 2023: Abdominal Radiology
#19
JOURNAL ARTICLE
Neslihan Cicek, Nurdan Yıldız, Sercin Guven, Mehtap Kaya, Ibrahim Gokce, Harika Alpay
We aimed to evaluate the clinical parameters, histopathological findings of nephrotic syndrome (NS) patients, and independent factors predicting steroid resistance in a single tertiary center. One hundred and sixty-two children (57 girls and 105 boys) with NS who were followed between 1998 and 2018 were analyzed in this retrospective cohort. The median (interquartile range; range) age and follow-up time were 4.9 (5.7; 0.1-16.8) and 5.5 (5.4; 0.1-20.3) years. A total of 82.7% of the patients were steroid-sensitive nephrotic syndrome (SSNS) and 17...
December 24, 2023: Clinical Pediatrics
#20
REVIEW
Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello, Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello, Roberto Chimenz
Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The NUP85 gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype-phenotype information. We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography...
November 27, 2023: Genes
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