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https://www.readbyqxmd.com/read/29350347/low-birth-weight-is-a-conditioning-factor-for-podocyte-alteration-and-steroid-dependance-in-children-with-nephrotic-syndrome
#1
Giovanni Conti, Dominique De Vivo, Claudia Fede, Stefania Arasi, Angela Alibrandi, Roberto Chimenz, Domenico Santoro
BACKGROUND: Low birth weight (LBW) is associated with reduced nephron endowment. Clinical-pathologic features of post adaptive focal segmental glomerulosclerosis (FSGS) have been observed in subjects with prematurity and very LBW. METHODS: We aimed to investigate the correlation between LBW and outcome in a cohort of 89 children with idiopathic nephrotic syndrome (NS) (2-12 years-old at onset, followed for > 3 years), of whom 21 with LBW (birth weight < 10th percentile for gestational age, gender, ethnicity, and maternal parity or birth weight < 2500 g)...
January 19, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29341230/successful-treatment-of-rituximab-and-steroid-resistant-nephrotic-syndrome-with-leukocytapheresis
#2
Maiko Takakura, Masaki Shimizu, Mao Mizuta, Natsumi Inoue, Yuko Tasaki, Kazuhide Ohta, Kengo Furuichi, Takashi Wada, Akihiro Yachie
Although rituximab (RTX) is a promising therapeutic agent for treating steroid-resistant nephrotic syndrome (SRNS) resistant to various immunosuppressive agents, some patients have shown resistance to RTX. We report the case of a patient with RTX-resistant nephrotic syndrome and SRNS who was successfully treated with leukocytapheresis (LCAP). After LCAP, there was a significant reduction in proteinuria and in the total number of lymphocytes, T cells, and HLA-DR+- activated T cells. Moreover, the patient became sensitive to steroids and RTX...
January 16, 2018: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29310412/kimura-disease-of-buccal-region-in-a-pediatric-patient-with-nephrotic-syndrome-a-case-report
#3
Dong Hoon Lee, Ga-Eon Kim, Eunmi Yang, Tae Mi Yoon, Joon Kyoo Lee, Sang Chul Lim
RATIONALE: Kimura disease is a rare benign, chronic inflammatory disorder that typically presents with slowly enlarging, nontender, subcutaneous swellings in the head and neck region. The occurrence of Kimura disease in the oral cavity is extremely rare. PATIENT CONCERNS: A 16-year-old boy presented with a complaint of a right painless buccal mass of 3 years' duration. DIAGNOSIS: The patient had been diagnosed with nephrotic syndrome and treated with corticosteroid at the age of 5 years...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29305810/serum-sickness-with-refractory-nephrotic-syndrome-following-treatment-with-rituximab
#4
Ryo Maeda, Yukihiko Kawasaki, Shinichiro Ohara, Kazuhide Suyama, Mitsuaki Hosoya
Rituximab (RTX) is effective for treating childhood refractory nephrotic syndrome (NS), such as steroid-dependent (SD), frequently relapsing (FR), and steroid-resistant (SR) NS. While RTX has been proven to be effective in treating SDNS, FRNS, and SRNS, it may cause serum sickness, a rare illness characterized by fever, rash, and arthralgia, 10-14 days after primary antigen exposure or within a few days after secondary antigen exposure, by producing human anti-chimeric antibodies (HACAs). A 17-year-old girl with refractory SDNS treated with RTX and oral cyclosporine A was admitted with fever and arthralgia 10 days after the fifth RTX dose was administered...
January 5, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29279552/nephrotic-syndrome-during-the-tapering-of-oral-steroids-after-pathological-diagnosis-of-kimura-disease-from-a-lacrimal-gland-mass-case-report-and-review-of-10-japanese-patients
#5
Toshihiko Matsuo, Takehiro Tanaka, Masaru Kinomura
A 42-year-old man with eosinophilia and high serum immunoglobulin E (IgE) developed a lacrimal gland mass on the left side. Excisional biopsy revealed hyperplasia of lymphoid follicles, and infiltration with lymphocytes and eosinophils around lacrimal gland acini, leading to the pathological diagnosis of Kimura disease. IgE-positive cells were mainly found along follicular dendritic cells, and a small number of IgG4-positive cells was present. One month after oral prednisolone was started at 40 mg daily and tapered to 10 mg daily, he developed lower leg edema on both sides and marked proteinuria (10...
2017: Journal of Clinical and Experimental Hematopathology: JCEH
https://www.readbyqxmd.com/read/29277510/hla-dqa1-and-apol1-as-risk-loci-for-childhood-onset-steroid-sensitive-and-steroid-resistant-nephrotic-syndrome
#6
Adebowale Adeyemo, Christopher Esezobor, Adaobi Solarin, Asiri Abeyagunawardena, Jameela A Kari, Sherif El Desoky, Larry A Greenbaum, Margret Kamel, Mahmoud Kallash, Cynthia Silva, Alex Young, Tracey E Hunley, Nilka de Jesus-Gonzalez, Tarak Srivastava, Rasheed Gbadegesin
BACKGROUND: Few data exist for the genetic variants underlying the risk for steroid-sensitive nephrotic syndrome (SSNS) in children. The objectives of this study were to evaluate HLA-DQA1 and APOL1 variants as risk factors for SSNS in African American children and use classic HLA antigen types and amino acid inference to refine the HLA-DQA1 association. STUDY DESIGN: Case-control study. SETTING & PARTICIPANTS: African American children with SSNS or steroid-resistant nephrotic syndrome (SRNS) were enrolled from Duke University and centers participating in the Midwest Pediatric Nephrology Consortium...
December 22, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29259860/steroid-resistant-nephrotic-syndrome-caused-by-co-inheritance-of-mutations-at-nphs1-and-adck4-genes-in-two-chinese-siblings
#7
Hongwen Zhang, Fang Wang, Xiaoyu Liu, Xuhui Zhong, Yong Yao, Huijie Xiao
Hereditary nephrotic syndrome often presents with steroid-resistance and onset within the first year of life. Mutations in genes highly expressed in podocytes have been found in two thirds of these patients, especially NPHS1 and NPHS2 among at least 29 genetic causes that have been discovered. We reported two siblings with steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 (c.1339G>A, p.E447K) and ACDK4 (c.748G>C, p.D250H) genes. The siblings presented with steroid-resistant nephrotic syndrome and pathological lesions of focal segmental glomerulosclerosis (FSGS), while the elder sister also developed hypertension, renal failure and cardiac dysfunction...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29249233/abatacept-efficacy-in-steroid-resistant-minimal-change-disease-revealed-by-the-speed-of-proteinuria-reduction-after-the-start-of-abatacept%C3%A2
#8
David Dado, Samir Parikh, Isabelle Ayoub, Brad Rovin, Tibor Nadasdy, Lee Hebert
A unique characteristic of the response of minimal-change disease (MCD) or focal and segmental glomerulosclerosis (FSGS) to steroid therapy is that the remission of proteinuria occurs quickly, for example, within 4 - 6 weeks of the onset of steroid therapy, even in those with severe nephrotic syndrome. Remission of proteinuria in MCD and FSGS can also occur spontaneously (not steroid induced). However, spontaneous remission usually proceeds over several months or longer. Recently, there have been several reports that abatacept can induce proteinuria remission in MCD and FSGS...
December 18, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29218062/preliminary-study-regarding-the-association-between-tumor-necrosis-factor-alpha-gene-polymorphisms-and-childhood-idiopathic-nephrotic-syndrome-in-romanian-pediatric-patients
#9
Ioana Tieranu, Monica I Dutescu, Constantin Bara, Cristian G Tieranu, Mihaela Balgradean, Olivia M Popa
Background: Childhood idiopathic nephrotic syndrome (INS) is one of the most common glomerular diseases, characterized by heavy proteinuria, hypoalbuminemia, dyslipidemia and generalized edema. Although some progresses were made regarding the pathogenesis of this disease, there are a lot of questions still left unanswered. Some of them involve the implications of several cytokines, including tumor necrosis factor alpha (TNF-alpha), in the development and clinical course of INS. Objective: Our objective was to analyze the role of two single nucleotide polymorphisms of TNF-alpha gene in the development of pediatric INS and their implication in the response to corticosteroid therapy...
September 2017: Mædica
https://www.readbyqxmd.com/read/29217878/a-randomized-controlled-trial-of-intravenous-versus-oral-cyclophosphamide-in-steroid-resistant-nephrotic-syndrome-in-children
#10
K M Shah, A J Ohri, U S Ali
This is a randomized, parallel group, active-controlled trial to compare the efficacy of intravenous cyclophosphamide (IVCP) with oral cyclophosphamide (OCP) in patients with steroid-resistant nephrotic syndrome (SRNS) in children. Fifty consecutive children with idiopathic SRNS were biopsied and then randomized to receive either OCP at a dose of 2 mg/kg/day for 12 weeks or IVCP at a dose of 500 mg/m2/month for 6 months. Both groups received tapering doses of oral steroids. The response was evaluated in terms of induction of complete remission (CR) or partial remission (PR), time to remit, and side effects...
November 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29212162/rituximab-treatment-in-adults-with-refractory-minimal-change-disease-or-focal-segmental-glomerulosclerosis
#11
Hong Ren, Li Lin, Pingyan Shen, Xiao Li, Jingyuan Xie, Xiaoxia Pan, Wen Zhang, Nan Chen
Rituximab (RTX) may benefit patients with glomerular disease who suffer from focal segmental glomerular sclerosis (FSGS) or minimal change disease (MCD). Here, we have described our experience treating 6 FSGS and 9 MCD patients with steroid-dependent/refractory nephrotic syndrome (NS) with RTX. Patients received RTX (375 mg/m2) intravenously on days 1, 8, 23, and 29. During a median follow-up of 8 months (range, 3-36 months) after RTX administration, all patients achieved complete or partial remission. Relapses decreased by approximately 30-fold compared with the year preceding RTX treatment, and an 89...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29207898/nr3c1-gene-polymorphisms-are-associated-with-steroid-resistance-in-patients-with-primary-nephrotic-syndrome
#12
Jie Liu, Zan Wan, Qianqian Song, Zhi Li, Yijing He, Yongjun Tang, Wanying Xie, Yanyun Xie, Jun Zhang
AIM: The aim of this study was to investigate the role of SNPs of genes involved in the glucocorticoid pathway in the development of steroid resistance in patients with primary nephrotic syndrome. METHODS: Sequenom MassARRAY method was used to sequence 25 SNP genotypes in 154 patients. The frequency distribution of the genotypes was compared between patients with steroid-sensitive nephrotic syndrome and those with steroid-resistant nephrotic syndrome. RESULTS: NR3C1 rs6196 G allele carriers had a decreased risk of steroid resistance compared with that of the A allele carriers...
December 6, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29207799/change-in-bone-mineral-density-and-role-of-vitamin-d-and-calcium-supplementation-during-treatment-of-first-episode-nephrotic-syndrome
#13
Virendra Kumar Yadav, Shobha Sharma, Pradeep Kumar Debata, Seema Patel, Bhaskar C Kabi, Kailash Chandra Aggrawal
Introduction: Nephrotic Syndrome (NS) is one of the common illnesses in childhood. Oral glucocorticoids are mainstay of treatment, which are known to cause various short term and long term adverse effects including osteoporosis. Children with first episode and infrequent relapsing NS are not prescribed Calcium (Ca) and Vitamin D (VitD) supplements routinely. Aim: To observe change in Bone Mineral Density (BMD) in children during first episode of NS and role of VitD and Ca supplementation during the treatment of first episode of NS...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29204098/effectiveness-of-rituximab-in-nephrotic-syndrome-treatment
#14
Katarzyna Popko, Elżbieta Górska, Elżbieta Kuźma-Mroczkowska
Idiopathic nephrotic syndrome (INS) is a common chronic illness characterized by massive proteinuria and hypo-albuminemia in children. Baseline treatment is 6 month-corticotherapy. In cases of steroid resistant/dependent INS several types of treatment are used, including course of methyloprednisolone "pulses", alkylating agents, cyclosporin A, levamisole and mycophenolate mofetil. It has been suggested that children with frequently relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome had a significantly longer relapse-free period if rituximab (RTX) treatment was additionally applied...
2017: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/29194833/mutations-in-coq8b-adck4-found-in-patients-with-steroid-resistant-nephrotic-syndrome-alter-coq8b-function
#15
Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J Acosta, Cristina Cerqua, Matteo Cassina, Shazia Ashraf, Friedhelm Hildebrandt, Geppo Sartori, Placido Navas, Eva Trevisson, Leonardo Salviati
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralogue genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequence (MTS) is replaced by a yeast MTS...
December 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/29191574/-collapsing-focal-segmental-glomerulosclerosis-induced-by-cytomegalovirus-a%C3%A2-case-report
#16
Clarisse Grèze, Cyril Garrouste, Jean-Louis Kemeny, Carole Philipponnet, Julien Aniort, Anne-Élisabeth Heng
Focal segmental glomerulosclerosis (FSGS) is a common cause of nephrotic syndrome in child and adult. The collapsing forms are of poor renal prognosis and are usually secondary to viral infections with, first and foremost, the human immunodeficiency virus. Among other viral etiologies, cytomegalovirus (CMV) is an uncommon cause. We report a case of a 32years-old patient with collapsing focal segmental glomerulosclerosis induced by cytomegalovirus with initial acute renal failure and proteinuria at 12.4g/24h...
November 27, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29190608/seropositivity-of-rheumatoid-arthritis-specific-tests-in-a-patient-with-nephrotic-syndrome-successful-treatment-with-rituximab
#17
Alireza Mirzaei, Yousef Ataeipoor, Mojgan Asgari, Mozhdeh Zabihiyeganeh
Presentation of rheumatoid arthritis (RA) with renal complications is very rare without articular symptoms. We here report a case of a 23-year-old woman, presenting with the edema of the extremities, no relevant previous medical history, and the features of acute tubular injury in her percutaneous kidney biopsy. Following the incidental notification of a positive rheumatoid factor test, other immunologic tests including anticyclic citrullinated peptide and antimutated citrullinated vimentin were performed, the positive results of which favored the diagnosis of RA...
November 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29190601/cytokine-gene-polymorphism-in-children-with-idiopathic-nephrotic-syndrome
#18
Dina Abdel Razek Midan, Nesreen Gamal Elhelbawy, Mona Salah El-Din Habib, Iman Aly Ahmedy, Rasha Ibrahim Noreldin
INTRODUCTION: Idiopathic nephrotic syndrome (INS) is a glomerular disease with completely unclear pathogenesis and different responses to steroid therapy. This study aimed to investigate the role of cytokine genes promoter polymorphisms in steroid therapy responses. MATERIALS AND METHODS: One hundred children with INS and 30 healthy controls were studied. Genotyping of TNF-α-G308A single nucleotide polymorphism was done using polymerase chain reaction-restriction fragment length polymorphism method, while of IL-6-G174C single nucleotide polymorphism was done using real-time polymerase chain reaction...
November 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29181713/genetic-testing-in-steroid-resistant-nephrotic-syndrome-why-who-when-and-how
#19
REVIEW
Rebecca Preston, Helen M Stuart, Rachel Lennon
Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease in childhood and has a significant risk of rapid progression to end-stage renal disease. The identification of over 50 monogenic causes of SRNS has revealed dysfunction in podocyte-associated proteins in the pathogenesis of proteinuria, highlighting their essential role in glomerular function. Recent technological advances in high-throughput sequencing have enabled indication-driven genetic panel testing for patients with SRNS...
November 27, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29169714/-idiopathic-nephrotic-syndrome
#20
O Boyer, V Baudouin, E Bérard, C Dossier, V Audard, V Guigonis, I Vrillon
Nephrotic syndrome (NS) is defined by massive proteinuria and hypoalbuminemia, with resulting hyperlipidemia and edema. The most common cause of NS in children is idiopathic nephrotic syndrome (INS), also called nephrosis. Its annual incidence has been estimated to 1-4 per 100,000 children and varies with age, race, and geography. Many agents or conditions have been reported to be associated with INS such as infectious diseases, drugs, allergy, vaccinations, and malignancies. The disease may occur during the 1st year of life, but it usually starts between the ages of 2 and 7 years...
December 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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