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https://www.readbyqxmd.com/read/29925096/inhibitors-in-hemophilia-b
#1
Cristina Santoro, Gabriele Quintavalle, Giancarlo Castaman, Erminia Baldacci, Antonietta Ferretti, Federica Riccardi, Annarita Tagliaferri
Hemophilia B (HB) is an X-linked bleeding disorder caused by deficiency of factor IX (FIX). Patients with the severe form (FIX <1%) account approximately for 30 to 45% of persons with HB and usually suffer from recurrent joint, soft-tissue, and muscle bleeds. The availability of safe plasma-derived and recombinant products has virtually abolished the risk of viral infections and the adoption of prophylactic regimens has attenuated the impact of hemophilic arthropathy. Therefore, the development of an inhibitor against FIX is currently the most serious complication that can still occur in the new generations of HB patients...
June 20, 2018: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29915132/the-spectrum-of-biopsy-proven-glomerular-diseases-among-children-in-china-a-national-cross-sectional-survey
#2
Sheng Nie, Wenjuan He, Ting Huang, Diankun Liu, Guobao Wang, Jian Geng, Nan Chen, Gang Xu, Ping Zhang, Yang Luo, Jing Nie, Xin Xu, Fan Fan Hou
BACKGROUND AND OBJECTIVES: High-quality epidemiologic data on the spectrum of biopsy-proven glomerular diseases among children are limited. This study aimed to determine the profile of and temporal change in biopsy-proven pediatric glomerular diseases in China. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We previously conducted a nationwide kidney biopsy survey including 71,151 patients over an 11-year period from January 2004 to December 2014. A total of 7962 children younger than 18 years old from 115 hospitals across China with biopsy-proven glomerular diseases were included in this study...
June 18, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29913123/pneumaturia-and-nephrotic-syndrome-caused-by-a-hidden-pelvic-malignancy
#3
Weijia Li, Barton Sanders, Ashita Tolwani
No abstract text is available yet for this article.
June 15, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29913001/efficacy-of-rituximab-vs-tacrolimus-in-pediatric-corticosteroid-dependent-nephrotic-syndrome-a-randomized-clinical-trial
#4
Biswanath Basu, Anja Sander, Birendranath Roy, Stella Preussler, Shilpita Barua, T K S Mahapatra, Franz Schaefer
Importance: Calcineurin inhibitors are an established first-line corticosteroid-sparing therapy for patients with corticosteroid-dependent nephrotic syndrome (CDNS), whereas B-lymphocyte-depleting therapy is mostly used as a rescue for calcineurin inhibitor-resistant cases. The positive efficacy and safety profile of rituximab raises the question of whether it could be used as a first-line alternative to calcineurin inhibitor therapy. Objective: To compare the efficacy of rituximab and tacrolimus in maintaining relapse-free survival among children with CDNS...
June 18, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29910038/idiopathic-nephrotic-syndrome-in-children
#5
REVIEW
Damien G Noone, Kazumoto Iijima, Rulan Parekh
The incidence of idiopathic nephrotic syndrome (NS) is 1·15-16·9 per 100 000 children, varying by ethnicity and region. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. Genetic risk is more commonly described among children with steroid-resistant disease. The mainstay of therapy is prednisone for the vast majority of patients who are steroid responsive; however, the disease can run a frequently relapsing course, necessitating the need for alternative immunosuppressive agents...
June 14, 2018: Lancet
https://www.readbyqxmd.com/read/29908693/collapsing-glomerulopathy-in-lambda-light-chain-amyloidosis-a-report-of-2-cases
#6
Mazdak A Khalighi, Alexander J Gallan, Anthony Chang, Shane M Meehan
Amyloid nephropathy is an uncommon disease that frequently presents with reduced kidney function and proteinuria and, in developed nations, is most often associated with underlying paraproteinemia. The histologic appearance of glomerular amyloid deposition includes mesangial and capillary wall infiltration by an amorphous eosinophilic material, and features of endo- or extracapillary proliferation are not typically seen. Rare cases of crescentic injury have been reported in a subset of patients with amyloid nephropathy, particularly those with amyloid derived from serum amyloid A protein...
June 13, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29903749/leveraging-ancestral-heterogeneity-to-map-shared-genetic-risk-loci-in-pediatric-steroid-sensitive-nephrotic-syndrome
#7
EDITORIAL
Rebecca Hjorten, Karl Skorecki
No abstract text is available yet for this article.
June 14, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29903748/transethnic-genome-wide-analysis-reveals-immune-related-risk-alleles-and-phenotypic-correlates-in-pediatric-steroid-sensitive-nephrotic-syndrome
#8
Hanna Debiec, Claire Dossier, Eric Letouzé, Christopher E Gillies, Marina Vivarelli, Rosemary K Putler, Elisabet Ars, Evelyne Jacqz-Aigrain, Valery Elie, Manuela Colucci, Stéphanie Debette, Philippe Amouyel, Siham C Elalaoui, Abdelaziz Sefiani, Valérie Dubois, Tabassome Simon, Matthias Kretzler, Jose Ballarin, Francesco Emma, Matthew G Sampson, Georges Deschênes, Pierre Ronco
Background Steroid-sensitive nephrotic syndrome (SSNS) is a childhood disease with unclear pathophysiology and genetic architecture. We investigated the genomic basis of SSNS in children recruited in Europe and the biopsy-based North American NEPTUNE cohort. Methods We performed three ancestry-matched, genome-wide association studies (GWAS) in 273 children with NS (Children Cohort Nephrosis and Virus [NEPHROVIR] cohort: 132 European, 56 African, and 85 Maghrebian) followed by independent replication in 112 European children, transethnic meta-analysis, and conditional analysis...
June 14, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29902327/epstein-barr-virus-infection-was-associated-with-nephrotic-syndrome-severe-thrombocytopenia-and-coombs-positive-haemolytic-anaemia
#9
Ahmad Amer, Maital Kaidar, Diana Tasher, Amir Lotan, Ilan Dalal
Epstein Barr virus (EBV) infections include a wide spectrum of clinical manifestations, ranging from asymptomatic to multiple organ involvement (1). Several complications have been described and renal involvement is usually nephritic and not nephrotic. Nephritic includes haematuria, proteinuria, renal impairment and salt retention causing hypertension and oedema, while nephrotic is defined as heavy proteinuria, with a protein/creatinine ratio of >200 mg/mmol, hypoalbuminemia of <25 g/L and oedema (2-4)...
June 14, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29902156/hypertriglyceridemia-thalassemia-syndrome
#10
Mili Jain, Wahid Ali, Brijendra Bahadur Singh, Nishant Verma, Ashutosh Kumar
BACKGROUND: Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. CASE PRESENTATION: We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made...
June 14, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29901607/membranoproliferative-glomerulonephritis-like-findings-for-tafro-syndrome-associated-with-an-anterior-mediastinal-tumor-a-case-report
#11
Yoshitaka Furuto, Hirotsugu Hashimoto, Hajime Horiuti, Yuko Shibuya
RATIONALE: TAFRO syndrome is a systemic inflammatory disease proposed recently from Japan. The cause of TAFRO syndrome is unclear. Moreover, the disease characteristics and kidney pathology are yet unknown well and there are few cases. Herein, we report a patient with TAFRO syndrome and present the features of the renal histopathology. PATIENT CONCERNS: A 55-year-old woman presented to our hospital with the main complaint of subacute dyspnoea. DIAGNOSIS: Physical findings included a low-grade fever and generalised oedema...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29895518/disseminated-cryptococcosis-associated-with-administration-of-eculizumab
#12
Megan Clancy, Ryan McGhan, Jeremy Gitomer, Ana Marie Inocencio, Christina Aldrich, Roberto Iaderosa, Ryan Stevens
PURPOSE: A case report of fatal disseminated cryptococcosis in a patient treated with eculizumab is presented along with a review of literature suggesting a possible etiologic mechanism. SUMMARY: A 23-year-old man with a history of minimal change nephrotic syndrome was hospitalized for acute kidney injury and abdominal pain and swelling. He was found to have disseminated pneumococcal disease, including peritonitis, bacteremia, and pulmonic endocarditis. The patient developed evidence of microangiopathic hemolytic anemia, leading to a diagnosis of atypical hemolytic uremic syndrome, and was started on eculizumab...
June 12, 2018: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/29895483/successful-treatment-of-massive-thrombosis-in-different-locations-with-prolonged-thrombolytic-therapy-a-life-saving-intervention
#13
Ibrahim Rencuzogullari, Metin Cağdaş, Suleyman Karakoyun, Yavuz Karabağ, Tufan Çınar
Venous thrombosis is recognized as one of the most important complications of nephrotic syndrome (NS). In patients with NS, venous thrombosis may develop in the renal veins, the deep veins of the lower limb, and the inferior vena cava. Here, we describe a case report of an NS patient with multiple venous thrombosis in the right renal vein, the left iliac vein, the vena cava inferior, the right atrium, and the pulmonary arteries. Moreover, we describe the successful treatment of multiple venous thrombosis with prolonged thrombolytic treatment in spite of an increased risk of bleeding due to renal biopsy...
June 3, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29891875/nephronectin-npnt-and-the-prediction-of-nephrotic-syndrome-response-to-steroid-treatment
#14
Mona Mohamed Watany, Hemat El-Sayed El-Horany
Steroid-resistant nephrotic syndrome represents about 10-20% of pediatrics' nephrotic syndrome. The regeneration of glomerular barrier seems pivotal for cessation of proteinuria. Nephronectin (NPNT) plays a major role in nephrogenesis, signal transduction, and epithelial-mesenchymal interactions. This study aims to preliminary assess NPNT as potential noninvasive biomarker of glomerular regeneration and its ability to identify steroid resistance. In this case control study, 80 retrospectively selected patients with nephrotic syndrome were enrolled in addition to 40 healthy controls...
June 11, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29891261/-chronic-lymphoid-leukemia-and-renal-complication-report-on-10-cases-from-marseille-over-16-years
#15
R Vial, L Daniel, M Devos, B Bouchacourt, G Cazajous, H Sichez, K Mazodier, M Lankester, P Gobert, J Seguier, L Swiader, M Sallée, N Jourde-Chiche, J-R Harlé
INTRODUCTION: Chronic lymphoid leukemia (CLL) is a hematological malignant disease, associated with a clonal B cell proliferation. The incidence is 4400 new cases per year in France. The prevalence increases with age with a median age at diagnostic of 65 years. Renal involvement is rare and estimated at 1.2% of patients with CLL. Renal pathological diagnoses associated with CLL are variable and are not always related to the hematological disease. We report here on cases of patients with CLL who underwent a renal biopsy over the past 16 years in Marseille...
June 8, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29887267/-immunizations-for-patients-with-kidney-disease
#16
Claire Trivin-Avillach, Éric Thervet
Chronic kidney disease (CKD) is associated with significant infectious complications leading to adverse health outcomes. This increased susceptibility to infection can be related to the nephropathy itself as observed in nephrotic syndrome, to the treatment especially in situations requiring immunosuppressive drugs or related to dialysis. Despite a less effective response to vaccination, some data emphasize similar benefits from immunization among people with CKD to the general population. However, some situations encountered in nephrology require adaptation of immunization practices...
June 7, 2018: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29885650/mother-s-obesity-and-high-child-s-waist-circumference-are-predictive-factors-of-severe-child-s-obesity-an-observational-study-in-french-guiana
#17
Falucar Njuieyon, Emma Cuadro-Alvarez, Elise Martin, Noémie Lachaume, Yajaira Mrsic, Fanny Henaff, Chimène Maniassom, Antoine Defo, Narcisse Elenga
BACKGROUND: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana. METHODS: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient's non opposition. RESULTS: Our group classifications revealed that 36 of 150 (24%) participants were classified as being metabolically abnormal obesity" (MAO), while 114 of 150 (76%) were categorized as metabolically normal obesity" (MNO)...
June 9, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29882112/bevacizumab-induced-thrombotic-microangiopathy-and-nephrotic-syndrome
#18
Yoshinosuke Shimamura, Takuto Maeda, Hideki Takizawa
No abstract text is available yet for this article.
June 7, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29877281/serial-manifestation-of-acute-kidney-injury-and-nephrotic-syndrome-in-a-patient-with-tafro-syndrome
#19
Seigo Ito, Takahiro Uchida, Hiroki Itai, Aoi Yamashiro, Akira Yamagata, Hidehito Matsubara, Toshihiko Imakiire, Hideyuki Shimazaki, Hiroo Kumagai, Naoki Oshima
A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear...
June 6, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29875851/the-spectrum-of-kidney-diseases-in-children-associated-with-low-molecular-weight-proteinuria
#20
Shpetim Salihu, Katerina Tosheska, Natasa Aluloska, Zoran Gucev, Svetlana Cekovska, Velibor Tasic
BACKGROUND: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and tubulointerstitial are diagnosed based on its presence. AIM: The purpose of this study is to describe the clinical features, the course and outcome of pediatric patients with a renal disease associated with LMWP. MATERIAL AND METHODS: This retrospective observational study included 250 pediatric patients with various kidney diseases in which the type of proteinuria was defined by 4-20% gradient gel sodium dodecyl sulphate polyacrylamide gel (SDS-PAG) electrophoresis...
May 20, 2018: Open Access Macedonian Journal of Medical Sciences
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