检索结果-南通市图书馆

Genetics of congenital and infantile nephrotic syndrome

World Journal of Pediatrics 2019年第2期15卷 198-203页

作者： Sara Nawfal Sharief Nada Abdullatif Hefni Walaa Ali Alzahrani Iman Ibrahim Nazer Marwa Abdullah Bayazeed Khalid A.Alhasan Osama Y.Safdar Sherif M.El-Desoky Jameela Abdulaziz Kari King Abdulaziz University JeddahKingdom of Saudi Arabia College of Medicine Pediatric DepartmentKing Saud UniversityRiyadhKingdom of Saudi Arabia Department of Pediatrics Faculty of MedicinePediatric Nephrology Center of ExcellenceKing Abdulaziz UniversityPO Box 80215Jeddah 21589Kingdom of Saudi Arabia

Background Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene *** study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our *** also discussed our different approach secondary to culture and *** A retrospective single-center study of all children diagnosed as NS before the age of l year over a duration of over one *** Twenty-nine children (12 boys) were included in the *** median age (range) was 2.4 (0.1-12) months (20 CNS and 9 INS).Consanguinity was present in 90% of *** genetic analysis' results were only available for 20 *** underlying causative homozygous mutation was detected in 18 children (90%):NPHS1 (9),NPHS2(2),LAMB2(3),PLCE1(1),WT1(1),and ITSN1 novel mutation (2).One child had heterozygous mutation of NPHS2 and another child had heterozygous mutation of NPHS1 which could not explain the *** CNS cases were all managed with intermittent intravenous albumin infusion,ACEi,diuretics,and *** of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited *** one child achieved partial remission,while 15 children died at a median (range) age of 5.8 (1.25-29) *** remaining 14 children were followed up for an average of 36 (3.9-120) *** children progressed to end-stage kidney disease and PD was performed in only two *** NPHS1 is the main underlying cause of CNS and INS in our study *** and INS were associated with high morbidity and mortality.

关键词： Congenital nephrotic Infantile nephrotic Genetics Outcome

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Usefulness of mizoribine administration in children with frequently relapsing nephrotic syndrome, and the relationship between pharmacokinetic parameters and efficacy: a multicenter prospective cohort study in China

引用

World Journal of Pediatrics 2019年第3期15卷 262-269页

作者： Zheng-Kun Xia Yuan-Fu Gao Li-Ping Rong Xi-Qiang Dang Qian Shen Xiao-Yun Jiang Zhu-Wen Yi Hong Xu Department of Pediatrics Jinling HospitalNanjing University School of MedicineNanjing 210002China Department of Pediatrics The First Affiliated Hospital of Sun Yat—Sen UniversityGuangzhou 510080China Department of Pediatric Nephrology Children’s Medical CenterSecond Xiangya HospitalCentral South University Changsha 410011China Department of Nephrology and Rheumatology Children’s Hospital of Fudan UniversityShanghai 201102China

Background Mizoribine (MZR) is an immunosuppressant used to treat adult *** is little experience with the drug in treating Chinese children with frequently relapsing nephrotic syndrome (FRNS).We investigated the efficacy and safety for treating MZR with ***,the relationship between efficacy and serum concentration was *** A prospective multicenter observational 12-month study was performed for evaluating the usefulness of MZR with *** MZR concentration was measured,and the relationships between pharmacokinetic parameters (Cmax,AUC),number of relapses,and urinary protein were *** Eighty-two pediatric patients from four hospitals were treated with MZR and *** treatment significantly reduced the number of relapses and steroid doses.A correlation between pharmacokinetic parameters and relapses was observed,which fits well with the sigmoidal Emax *** in the relationship between pharmacokinetic parameters and urinary proteins,it was recognized that there was a threshold in the pharmacokinetic parameters for the therapeutic effect similar to the results obtained with the sigmoidal Emax *** patients (13.4%) experienced mild adverse *** MZR therapy was effective in reducing the number of relapses and steroid *** severe adverse reactions were *** effective serum concentrations were estimated to be Cmax > about 2 μg/mL or AUC > about 10 lag h/*** and steroid treatment were effective and safe for pediatric FRNS.

关键词： Frequently relapsing nephrotic syndrome Mizoribine Pharmacokinetic parameters

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Hypereosinophilia, mastectomy, and nephrotic syndrome in a male patient: A case report

引用

World Journal of Clinical Cases 2019年第19期7卷 3145-3152页

作者： Jian Wu Peng Li Yu Chen Xiang-Hong Yang Meng-Yun Lei Li Zhao Department of Anesthesiology Shengjing HospitalChina Medical UniversityShenyang 110004Liaoning ProvinceChina Department of Respiratory Medicine Shengjing HospitalChina Medical UniversityShenyang 110004Liaoning ProvinceChina Department of Pathology Shengjing HospitalChina Medical UniversityShenyang 110004Liaoning ProvinceChina Department of Endocriology Shengjing HospitalChina Medical UniversityShenyang 110004Liaoning ProvinceChina

BACKGROUND Hypereosinophilia(HE)is a heterogeneous disease of unknown etiology in which tissue and organ injury is inflicted by excess numbers of circulating or infiltrating ***,we describe a patient with rare organ damage due to HE and review the pertinent *** SUMMARY A 43 year-old Chinese man with a 13-year history of eosinophilia and shortness of breath for 7 d presented to our *** the course of his illness,the patient variably presented with gastrointestinal symptoms,eczema,vitiligo,mastitis,joint symptoms,nephrotic syndrome,and interstitial *** chronic mastitis proved burdensome,necessitating bilateral *** was diagnosed by repeat bone marrow biopsy,and a kidney biopsy showed focal segmental *** steroidal therapy is typically initiated to relieve such symptoms,although relapse and organ involvement often ensue once treatment is *** administered methylprednisolone sodium succinate(40 mg/d)intravenously for 3 d,followed by oral tablets at the same *** computed tomography(CT)of the chest CT showed relative improvement of the interstitial *** patient is currently on a continuous regimen of oral steroid,and his condition is *** HE is heterogeneous *** is the first reported case of bilateral mastectomy in a male patient with longstanding HE.

关键词： Hypereosinophilia Mastectomy nephrotic syndrome Interstitial pneumonia Case report

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Rituximab-induced IgG hypogammaglobulinemia in children with nephrotic syndrome and normal pre-treatment IgG values

引用

World Journal of Clinical Cases 2019年第9期7卷 1021-1027页

作者： Pierluigi Marzuillo Stefano Guarino Tiziana Esposito Anna Di Sessa Sara Immacolata Orsini Daniela Capalbo Emanuele Miraglia del Giudice Angela La Manna Department of Woman Child and of General and Specialized Surgery Università degli Studi della Campania "Luigi Vanvitelli"

BACKGROUND In paediatric patients with complicated nephrotic syndrome(NS), rituximab(RTX) administration can induce persistent IgG hypogammaglobulinemia among subjects showing low basal immunoglobulin G(IgG) *** To evaluate the effect of RTX on IgG levels and infections in patients with complicated NS and normal basal IgG *** We consecutively enrolled all patients with complicated NS and normal basal IgG levels undergoing the first RTX infusion from January 2008 to January 2016. Basal IgG levels were dosed after 6 wk of absent proteinuria and with a maximal interval of 3 mo before RTX infusion. The primary outcome was the onset of IgG hypogammaglobulinemia during the follow-up according to the IgG normal values for age [mean ± standard deviation(SD)].RESULTS We enrolled 20 patients with mean age at NS diagnosis of 4.2 ± 3.3 years. The mean age at the first RTX infusion was 10.9 ± 3.5 years. Eleven out of twenty patients(55%) developed IgG hypogammaglobulinemia. None of these patients showed severe or recurrent infections. Only one patient suffered from recurrent acute otitis media and underwent substitutive IgG infusion. Three patients undergoing only the two "starting doses" experienced normalization of IgG levels. Using Kaplan-Meier analysis, the cumulative proportion of patients free of IgG hypogammaglobulinemia was 57.8% after the first RTX dose, 51.5% after the third dose, 44.1% after the fourth dose, and 35.5% after the fifth *** RTX can induce IgG hypogammaglobulinemia in patients with pre-RTX IgG normal values. None of the treated patients showed severe infections.

关键词： nephrotic syndrome Rituximab IgG hypogammaglobulinemia Immunoglobulin

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Immunopathogenesis of idiopathic nephrotic syndrome

引用

Cellular & Molecular Immunology 2022年第12期19卷 1429-1431页

作者： B.Savas F.Fofana S.Le Gouvello A.Pawlak D.Sahali M.Ollero UniversitéParis Est(UPEC) Facultéde SantéUMRS 955CréteilF-94010France AP-HP Groupe Henri-Mondor Albert-ChenevierService de NéphrologieCréteilF-94010France

Idiopathic nephrotic syndrome(INS)describes a group of rare glomerular diseases characterized by massive proteinuria and hypoalbuminemia in the absence of glomerular inflammatory lesions or immunoglobulin *** includes two main entities based on kidney biopsy findings:minimal-change nephrotic syndrome(MCNS)and focal segmental glomerulosclerosis(FSGS).The treatment of INS relies on steroids and/or immunosuppressive drugs(calcineurin inhibitors,cyclophosphamide,mycophenolate mofetil,and rituximab).

关键词： nephrotic drugs pathogenesis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Clinical and genetic analysis of Dent disease with nephrotic range albuminuria in Shaanxi, China

引用

Science China(Life Sciences) 2019年第12期62卷 1590-1593页

作者： Ying Bao Lei Suo Pei Qian Huimei Huang Ying Yang Jun Tang Min Zhang Zhijuan Li Ying Wang Nan Liang Yili Wang Department of Nephrology Xi'an Children s HospitalShaanxi Children's Medical CenterThe Affiliated Children's Hospital of Xi'an Jiao tong UniversityXi'an 710003China Institute for Cancer Research School of Basic Medical ScienceHealth Science Center of Xi'an Jiaotong UniversityXi'an 710061China

Dear Editor,Dent disease is a rare X-linked recessive disease that was first reported by Charles Enrique Dent and *** in 1964(Dent and Friedman,1964).Dent disease is caused by mutations in the CLCN5(Dent disease 1)or OCRL1(Dent disease 2).The condition is characterized by proximal renal tubular dysfunction that manifests as low molecular weight proteinuria(LMWP),hypercalciuria,nephrocalcinosis or nephrolithiasis,and progressive renal ***,the total protein excretion in tubular proteinuria is lower than that in glomerular diseases;therefore,nephrotic range proteinuria(NP)is not prevalent in patients with documented CLCN5 or OCRL1 ***,we report the cases of six Chinese children with Dent disease who manifested NP and were finally diagnosed using genetic *** aim was to elucidate the characteristics of Dent disease in Shaanxi area to facilitate possible improvements in its detection and treatment.

关键词： nephrotic diseases Den

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Keeping nephrotic syndrome on the emergency department edema differential: A case report

引用

World Journal of Emergency Medicine 2019年第2期10卷 116-118页

作者： Joshua Goodwin Bijon Das Department of Emergency Medicine Dalhousie University Faculty of Medicine

Dear editor,nephrotic syndrome is defined by the presence of peripheral edema,heavy proteinuria(greater than 3.5 g/24h),and hypoalbuminemia(less than 3 g/dL).^[1]nephrotic syndrome is relatively rare,with an incidence of 3 new patients per 100,000 per year in adults.^[1]Despite being a known cause for new onset edema in patients at any age,nephrotic syndrome is often neglected in considering differential diagnoses for this presentation in primary care settings,and initial workups often focus on ruling out cardiac and hepatic causes of edema.^[1-3]In this case report,we describe a 25-year-old male patient who presented to the emergency department(ED)complaining of a 10-day history of *** was later diagnosed with nephrotic syndrome secondary to minimal change *** case served as a reminder to include the differential diagnosis of nephrotic syndrome early in the workup of an adult with peripheral edema presenting to the ED.

关键词： Dear editor nephrotic syndrome peripheral edema

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Effect of angiotensin converting enzyme gene I/D polymorphism in South Indian children with nephrotic syndrome

引用

The Journal of Biomedical Research 2019年第3期33卷 201-207页

作者： Aravind Selvin Kumar Ramanathan Balakrishnan Karuppiah Murali Vijayan Kamaraj Raju Dhivakar Mani Rathika Chinniah Manikandan Thirunavukkarasu Padma Malini Ravi Jeyaram Illiayaraja Krishnan Prabha Senguttuvan Department of Pediatric Nephrology Institute of Child Health and Hospital for Children Department of Medical Genetics The Tamil Nadu Dr.M.G.R.Medical University Department of Immunology School of Biological SciencesMadurai Kamaraj University Department of Biotechnology and Genetic Engineering Bharathidasan University Department of Clinical Research Narayana Health City Department of Pediatric Nephrology Dr.Mehta’s Children’s Hospital

nephrotic syndrome is one of the most common childhood kidney diseases. It is mostly found in the age group of 2 to 8 years. Around 10%-15% of nephrotic syndrome cases are non-responders of steroid treatment(SRNS).Angiotensin converting enzyme(ACE)(I/D) gene association studies are important for detecting kidney disease and herein we assessed the association of ACE(I/D) polymorphism with nephrotic syndrome in South Indian children. We recruited 260 nephrotic syndrome(162 boys and 98 girls) and 218(140 boys and 78 girls) control subjects. ACE I/D polymorphism was analyzed by PCR using genotype allele specific primers. In ACE(I/D), we did not find significant association for the ungrouped data of nephrotic syndrome children and the control subjects. Kidney biopsies were done in 86 nephrotic syndrome cases(minimal change disease, n = 51;focal segmental glomerulosclerosis, n = 27;diffuse mesangial proliferation, n = 8). We segregated them into the minimal change disease/focal segmental glomerulosclerosis groups and observed that the ACE’D’ allele was identified with borderline significance in cases of focal segmental glomerulosclerosis and the ’Ⅰ’ allele was assessed as having very weak association in cases of minimal change disease. ’Ⅱ’ genotype was weakly associated with minimal change disease. Gender specific analysis revealed weak association of’ID’ genotype with female nephrotic syndrome in females. Dominant expression of DD genotype was observed in males with nephrotic syndrome. Our finding indicated that ACE(I/D) has moderate association with focal segmental glomerulosclerosis. However, due to the limited number of biopsy proven focal segmental glomerulosclerosis subjects enrolled, further studies are required to confirm these results.

关键词： angiotensin converting enzyme focal segmental glomerulosclerosis minimal change disease nephrotic syndrome

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

The status quo and challenges of genetic diagnosis in children with steroid-resistant nephrotic syndrome

引用

World Journal of Pediatrics 2018年第2期14卷 105-109页

作者： Yan-Yan Jin Bing-Yu Feng Jian-Hua Mao Department of Nephrology Children's HospitalZhejiang University School of Medicine#57 Zhugan LaneHangzhou 310003China Department of Paediatrics The First People's Hospital of HuzhouHuzhou 313000China

Introduction Idiopathic nephrotic syndrome(INS)is one of the most common renal diseases in the pediatric population,which is characterized by massive proteinuria,hypoalbuminemia,edema,and hyperlipidemia[1].

关键词： diagnosis nephrotic diseases

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

A Case Report of Acute Arterial Embolization of Right Lower Extremity As the Initial Presentation of nephrotic Syndrome with Minimal Changes

引用

Chinese Medical Sciences Journal 2016年第4期31卷 261-263页

作者： Ming-ming Ma Li-hua Luo Shu-fei Zeng Xiao-yi Chen Fan-na Liu Bao-zhang Guan Zhan-hua Chen Xiang-nan Dong Liang-hong Yin Department of Nephrology the First Affiliated Hospital of Jinan University

THROMBOEMBOLISM is a well-known complicationof nephrotic syndrome. Deep vein thrombosis,pulmonary embolism and renal vein thrombosisare the most common venous thromboembolicdiseases in patients with nephrotic syndrome, while arterialthromboembolic complications are observed less frequently,and rarely when it occurs before the diagnosis of nephroticsyndrome.1 Here we report a case with minimal change ofnephrotic syndrome who presented initially as external iliacartery thrombosis, which may be associated with longsitting while playing Mah-Jong.

关键词： acute arterial thrombosis nephrotic syndrome

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：