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steroid resistant nephrotic syndrome

Daniela A Braun, Jillian K Warejko, Shazia Ashraf, Weizhen Tan, Ankana Daga, Ronen Schneider, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Makiko Nakayama, David Schapiro, Jia Rao, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Hannah Hugo, Sevcan A Bakkaloglu, Jameela A Kari, Sherif El Desoky, Ghaleb Daouk, Shrikant Mane, Richard P Lifton, Shirlee Shril, Friedhelm Hildebrandt
Background: Nephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, ∼15% of childhood-onset cases do not respond to steroid therapy and are classified as steroid-resistant NS (SRNS). In ∼30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes laminin-α5, an essential component of the glomerular basement membrane. Mice with a hypomorphic mutation in the orthologous gene Lama5 develop proteinuria and hematuria...
March 9, 2018: Nephrology, Dialysis, Transplantation
Fei Liu, Jian-Hua Mao
BACKGROUND: Calcineurin inhibitors (CNIs) are commonly given to transplant recipients of kidneys and other solid organs and to patients with immune disorders, such as steroid-resistant nephrotic syndrome, steroid-dependent nephrotic syndrome, and frequent relapse nephrotic syndrome. Although CNIs remain the most effective available immunosuppressant agent, there is clinical concern regarding possible long-term nephrotoxicity. This concern is especially significant in children who have a longer life expectancy and greater growth rate...
March 12, 2018: World Journal of Pediatrics: WJP
N Prasad, R Manjunath, D Rangaswamy, A Jaiswal, V Agarwal, D Bhadauria, A Kaul, R Sharma, A Gupta
Calcineurin inhibitors (CNIs) are the preferred drugs for treatment of childhood steroid-resistant nephrotic syndrome (SRNS) who are also resistant to cyclophosphamide (CYC). Although few studies have shown a benefit of one over the other, efficacy and safety of either CNIs (tacrolimus [TAC] or cyclosporine [CSA]) in this special population remained to be assessed in long-term studies. Forty-five children with SRNS who were also resistant to CYC (CYC-SRNS) from January 2006 to June 2011, were included in the study...
January 2018: Indian Journal of Nephrology
Shojiro Watanabe, Tomomi Aizawa, Hiroyasu Tsukaguchi, Koji Tsugawa, Kazushi Tsuruga, Akemi Shono, Kandai Nozu, Kazumoto Iijima, Kensuke Joh, Hiroshi Tanaka
Recent advances in high-throughput sequencing for clinical genetic testing have revealed novel disease-causing genes, such as Crumbs homolog 2 (CRB2) for early-onset steroid-resistant nephrotic syndrome (SRNS). We report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp located in the 10th and 11th epidermal growth factor-like domains, respectively). She was initially examined during a mass urinary mass screening for 3...
February 23, 2018: Nephrology
Beata Bieniaś, Przemysław Sikora
In chronic glomerulopathies, renal fibrosis (RF) results from extracellular matrix remodeling processes regulated by matrix metalloproteinases (MMP) and tissue inhibitors of metalloproteinases (TIMP). We assessed urinary (u-) and serum (s-) MMP-1, -2, -9, TIMP-1, -2 concentrations and MMP-1, -2, -9/TIMP-1, -2 ratios in children with nephrotic syndrome. Steroid-dependent and steroid-resistant nephrotic patients (SDNS-Ps and SRNS-Ps, respectively) were compared with respect to measured parameters. The correlations of measured parameters with magnitude of proteinuria and histopathological diagnosis were determined...
February 2018: Medicine (Baltimore)
Bedra Sharif, Moumita Barua
PURPOSE OF REVIEW: The widespread adoption of next-generation sequencing by research and clinical laboratories has begun to uncover the previously unknown genetic basis of many diseases. In nephrology, one of the best examples of this is seen in focal and segmental glomerulosclerosis (FSGS) and nephrotic syndrome. We review advances made in 2017 as a result of human and molecular genetic studies as it relates to FSGS and nephrotic syndrome. RECENT FINDINGS: There are more than 50 monogenic genes described in steroid-resistant nephrotic syndrome and FSGS, with seven reported in 2017...
February 19, 2018: Current Opinion in Nephrology and Hypertension
Rozita Hoseini, Kamran Sabzian, Hasan Otukesh, Nazanin Zafaranloo, Parsa Panahi, Nahid Rahimzadeh, Shahrbanoo Nakhaie, Mohsen Akhavan Sepehi
INTRODUCTION: There is evidence of the effectiveness of rituximab in treatment of nephrotic syndrome in children. The present study aimed to assess safety and the therapeutic effectiveness of rituximab in steroid- and cyclosporine-resistant pediatric nephrotic syndrome. MATERIALS AND METHODS: Forty-three children with steroid- and cyclosporine-resistant or steroid- and cyclosporine-dependent noncongenital nephrotic syndrome were included in the study to receive intravenous rituximab, 375 mg/m2/wk, for 4 weeks...
January 2018: Iranian Journal of Kidney Diseases
Yuan Yang, Li Zhao, Li Xiao, Yumei Liang, Chang Wang, Xiao Fu, Xuejing Zhu, Shuguang Yuan, Jianling Zhu, Xiaoping Zhu, Yinghong Liu, Jun Li, Jian Luo, Fuyou Liu, Lin Sun
BACKGROUND/AIMS: The present study aimed to explore the equivalence of CHL and tacrolimus (TAC), despite reports regarding the efficacy and safety of TAC in treating SRNS patients. METHODS: A retrospective cohort study of CHL or TAC treatment was performed by collecting the medical records of SRNS patients with a pathological classification of focal segmental glomurular sclerosis (FSGS) or membranous nephropathy (MN) from December 2008 to December 2014 in a 3A grade hospital in southern China...
January 24, 2018: Kidney & Blood Pressure Research
Maria-Carmen Serrano-Perez, Frances C Tilley, Fabien Nevo, Christelle Arrondel, Selim Sbissa, Gaëlle Martin, Kalman Tory, Corinne Antignac, Géraldine Mollet
Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of hereditary steroid-resistant nephrotic syndrome. A mutant allele encoding podocin with a p.R138Q amino acid substitution is the most frequent pathogenic variant in European and North American children, and the corresponding mutant protein is poorly expressed and retained in the endoplasmic reticulum (ER) both in vitro and in vivo To better understand the defective trafficking and degradation of this mutant, we generated human podocyte cell lines stably expressing podocinwt or podocinR138Q Although it has been proposed that podocin has a hairpin topology, we present evidence for podocinR138Q N-glycosylation, suggesting that most of the protein has a transmembrane topology...
January 30, 2018: Journal of Biological Chemistry
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
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
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
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
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
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
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
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...
January 2018: Pharmacogenomics
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
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 paralog 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...
March 2018: Human Mutation
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
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