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Nephrotic syndrom

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https://www.readbyqxmd.com/read/28819780/preliminary-research-on-syndrome-types-of-chinese-medicine-in-children-with-primary-nephrotic-syndrome
#1
Wen Sun, Jian Yu, Gu-Lan Zeng, Bing-Feng Zhang
OBJECTIVE: To provide an objective reference for the syndrome types of Chinese medicine (CM) associated with pediatric primary nephrotic syndrome (PNS). METHODS: A cross-sectional study was performed. Data on clinical symptoms, CM syndrome types, biochemical indices, and medications used were collected from 98 children with PNS. Then, the correlation between CM syndromes and biochemical indices, as well as medications used, was analyzed. RESULTS: The four most common symptoms in children with PNS were brown urine, red tongue, excessive sweating, and swelling of the face and limbs...
August 17, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28818041/erratum-to-nephron-development-and-extrarenal-features-in-a-child-with-congenital-nephrotic-syndrome-caused-by-null-lamb2-mutations
#2
Jiro Kin, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
No abstract text is available yet for this article.
August 17, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#3
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
August 16, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28814510/a-heterologous-model-of-thrombospondin-type-1-domain-containing-7a-associated-membranous-nephropathy
#4
Nicola M Tomas, Catherine Meyer-Schwesinger, Hanning von Spiegel, Ahmed M Kotb, Gunther Zahner, Elion Hoxha, Udo Helmchen, Nicole Endlich, Friedrich Koch-Nolte, Rolf A K Stahl
Thrombospondin type 1 domain-containing 7A (THSD7A) is a target for autoimmunity in patients with membranous nephropathy (MN). Circulating autoantibodies from patients with THSD7A-associated MN have been demonstrated to cause MN in mice. However, THSD7A-associated MN is a rare disease, preventing the use of patient antibodies for larger experimental procedures. Therefore, we generated antibodies against the human and mouse orthologs of THSD7A in rabbits by coimmunization with the respective cDNAs. Injection of these anti-THSD7A antibodies into mice induced a severe nephrotic syndrome with proteinuria, weight gain, and hyperlipidemia...
August 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28811743/retroperitoneal-bleeding-an-experience-during-prophylactic-anticoagulation-in-a-patient-with-nephrotic-syndrome
#5
Mari Okada, Tetsu Akimoto, Mutsumi Kawamata, Toshimi Imai, Erika Hishida, Marina Kohara, Atsushi Miki, Takuya Murakami, Taro Sugase, Takahiro Masuda, Yuko Ono, Yoshihiko Ueda, Osamu Saito, Shigeaki Muto, Daisuke Nagata
The association between nephrotic syndrome (NS) and a hypercoagulable state has been demonstrated. Controlling the blood clotting activity may therefore be attractive for patients with nephrosis in terms of thromboembolism prophylaxis. We herein report a 75-year-old woman with minimal change disease who developed pains in the right back, groin, and thigh because of retroperitoneal bleeding during prophylactic anticoagulation with unfractionated heparin. Although this procedure has not been accepted as the standard of care for patients with nephrosis, pharmacologic prophylaxis may already be practiced empirically, as in the present patient...
2017: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/28805828/mutations-in-keops-complex-genes-cause-nephrotic-syndrome-with-primary-microcephaly
#6
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28803697/tumor-necrosis-factor-alpha-gene-polymorphisms-and-haplotypes-in-egyptian-children-with-nephrotic-syndrome
#7
Doaa M Youssef, Amal S El-Shal, Samia Hussein, Khaled Salah, Abd El Rahman E Ahmed
BACKGROUND: Nephrotic syndrome (NS) characterized by complex pathogenesis and clinical course with relapses; and needs novel breakthroughs for decades. Polymorphisms of cytokines genes including tumor necrosis factor alpha (TNF-α)may influence susceptibility to NS as well as different patients' steroid responses. In the current study, we demonstrated the potential roles of TNF-α promoter gene polymorphisms [-238, -308, -863] and haplotypes in susceptibility to childhood NS. Also, elucidating their possible influence on patients' steroid response and serum TNF-α level...
August 10, 2017: Cytokine
https://www.readbyqxmd.com/read/28798906/cerebral-sinovenous-thrombosis
#8
REVIEW
Rebecca Ichord
Cerebral sinovenous thrombosis (CSVT) is a rare but serious cerebrovascular disorder affecting children from the newborn period through childhood and adolescence. The incidence is estimated at 0.6/100,000/year, with 30-50% occurring in newborns. Causes are diverse and are highly age dependent. Acute systemic illness is the dominant risk factor among newborns. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28796785/low-renal-but-high-extrarenal-phenotype-variability-in-schimke-immuno-osseous-dysplasia
#9
Beata S Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A Kari, Mohamed A Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing...
2017: PloS One
https://www.readbyqxmd.com/read/28794382/edoxaban-was-effective-for-treating-renal-vein-thrombosis-in-a-patient-with-nephrotic-syndrome
#10
Yoshitaka Shimada, Yasushi Nagaba, Hide Nagaba, Mariko Kamata, Junya Murano, Fumi Kamata, Chikako Okina, Hiroshi Nonoguchi, Hajime Shimada, Yasuo Takeuchi
A 39-year-old man with nephrotic syndrome was admitted due to right dorsal pain. Contrast-enhanced CT led to a diagnosis of renal vein thrombosis and segmental pulmonary thromboembolism. Treatment with heparin and warfarin was started. After 1 month, pulmonary thromboembolism recurred. Warfarin was switched to edoxaban, and steroid therapy was initiated, which led to the remission of nephrotic syndrome and the disappearance of renal vein thrombosis. The efficacy of edoxaban was demonstrated; however, this drug has not been routinely selected for patients with renal disease...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28793022/kidney-involvement-in-malaria-an-update
#11
Geraldo Bezerra da Silva, José Reginaldo Pinto, Elvino José Guardão Barros, Geysa Maria Nogueira Farias, Elizabeth De Francesco Daher
Malaria is an infectious disease of great importance for Public Health, as it is the most prevalent endemic disease in the world, affecting millions of people living in tropical areas of the globe. Kidney involvement is relatively frequent in infections by P. falciparum and P. malariae, but has also been described in the infection by P. vivax. Kidney complications in malaria mainly occur due to hemodynamic dysfunction and immune response. Liver complications leading to hepatomegaly, jaundice and hepatic dysfunction can also contribute to the occurrence of acute kidney injury...
2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28792718/mdr-1-and-cyp3a5-polymorphisms-in-pediatric-idiopathic-nephrotic-syndrome-impact-on-susceptibility-and-response-to-steroids-preliminary-results
#12
Amira Moussa, Sameh Mabrouk, Haithem Hamdouni, Maroua Ajmi, Miniar Tfifha, Asma Omezzine, Saoussen Abroug, Ali Bouslama
BACKGROUND: Oral steroid treatment is the first line of therapy for childhood nephrotic syndrome (NS). However, resistance to this treatment has been observed in some patients. Here, we investigated the association of two steroid metabolism-related genes with susceptibility to childhood NS and the steroid response. METHODS: We genotyped the single nucleotide polymorphisms (SNP) of MDR-1 [C1236T (rs1128503), G2677T/A (rs2032582), and C3435T (rs1045642)] and the CYP3A5 gene (A6986G) in 63 NS patients and 110 age and gender matched controls by PCR-RFLP...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28790860/the-level-of-urinary-semaphorin3a-is-associated-with-disease-activity-in-patients-with-minimal-change-nephrotic-syndrome
#13
Akiko Inoue-Torii, Shinji Kitamura, Jun Wada, Kenji Tsuji, Hirofumi Makino
Semaphorin3A is a secreted protein known to be involved in organogenesis, immune responses and cancer. In the kidney, semaphorin3A is expressed in the glomerular podocytes, distal tubules and collecting tubules, and believed to play a role in the regulation of the kidney development and function. We examined the serum and urinary semaphorin3A levels in 72 patients with renal disease and 5 healthy volunteers. The patients had been diagnosed with thin basement membrane disease (n=4), minimal change nephrotic syndrome (MCNS; n=22), IgA nephritis (n=21), membranous nephropathy (n=16) and focal segmental glomerular sclerosis (n=9)...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28789767/-primary-membranous-nephropathy-presenting-as-relapsing-ascites
#14
Kristine Lindhard, Martin Egefjord, Otto Clemmesen
Ascites is common in patients with liver cirrhosis. It may present as a clinical manifestation in nephrotic syndrome in adults, typically with heart- or liver disease together with other oedema. We describe a 64-year-old male patient - with no liver or heart disease - with relapsing ascites and no other oedema, who was surprisingly diagnosed with primary membranous nephropathy (MN), and the autoantibody anti-PLA2R was positive. Through immunotherapy the ascites disappeared. Anti-PLA2R and anti-TSHD7A can be used in the diagnosis (primary/secondary MN) and may play a role in the treatment and prognosis...
July 24, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28781794/a-case-of-membranous-glomerulopathy-associated-with-lung-cancer-and-review-of-the-literature
#15
Aydin Aytekin, Ahmet Ozet, Irem Bilgetekin, Betul Ogut, Aydin Ciltas, Mustafa Benekli
Membraneous nephropathy (MN) is the most commonly occurring nephrotic syndrome in adults as well as the most common paraneoplastic nephropathy associated with solid tumors, and it is mostly associated with gastrointestinal system and lung carcinomas. Accurate diagnosis is important as the treatment of paraneoplastic glomerulonephritis is very varied from that of idiopathic ones. In the current report, a case of a patient that was referred with proteinuria and edema and was diagnosed with lung cancer, and responded markedly to treatment of malignancy, with improvement of MN, is presented...
August 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28780565/clinical-genetic-testing-using-a-custom-designed-steroid-resistant-nephrotic-syndrome-gene-panel-analysis-and-recommendations
#16
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs). METHODS: This study reports results of 302 patients referred for SRNS diagnostic gene panel analysis...
August 5, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28778048/risk-stratification-of-patients-with-diabetes-and-the-role-of-sodium-glucose-co-transporter-inhibitors-2-during-ramadan-fasting
#17
Zaina Adnan
The month of Ramadan represents a golden opportunity for better management of patients with diabetes not only during Ramadan month, but also through the entire year. Pre Ramadan period is crucial for evaluating and preparing patients with diabetes intending to Fast Ramadan. The risk stratification categories should take into consideration patients with diabetes having specific conditions such as nephrotic syndrome who are predisposed to thrombosis independent to their estimated glomerular filtration rate and glycated haemoglobin...
July 13, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28776307/genetic-basis-of-adult-onset-nephrotic-syndrome-and-focal-segmental-glomerulosclerosis
#18
REVIEW
Jian Liu, Weiming Wang
Nephrotic syndrome (NS) is one of the most common glomerular diseases with signs of nephrosis, heavy proteinuria, hypoalbuminemia, and edema. Dysfunction of glomerular filtration barrier causes protein loss through the kidneys. Focal segmental glomerulosclerosis (FSGS) accounts for nearly 20% of NS among children and adults. Adult-onset FSGS/NS is often associated with low response to steroid treatment and immunosuppressive medication and poor renal survival. Several genes involved in NS and FSGS have been identified by linkage analysis and next-generation sequencing...
August 3, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28774949/renoprotective-effect-of-topiroxostat-via-antioxidant-activity-in-puromycin-aminonucleoside-nephrosis-rats
#19
Yosuke Kawamorita, Takeshi Shiraishi, Yoshifuru Tamura, Takanori Kumagai, Shigeru Shibata, Yoshihide Fujigaki, Makoto Hosoyamada, Takahiko Nakagawa, Shunya Uchida
Topiroxostat is a novel inhibitor of xanthine oxidase, and is postulated to exert a renoprotective effect. Puromycin aminonucleoside nephrosis (PAN) is a rat model of minimal change nephrotic syndrome. In this study, we examined whether topiroxostat ameliorates the kidney injury in PAN rats that was induced by a single intraperitoneal injection of PA (100 mg/kg body weight). Rats were divided into four groups: control rats, PAN rats, control rats treated with topiroxostat (1.0 mg/kg/day), and PAN rats treated with topiroxostat...
August 2017: Physiological Reports
https://www.readbyqxmd.com/read/28774288/the-impact-of-igm-deposits-on-the-outcome-of-nephrotic-syndrome-in-children
#20
Sandra Juozapaite, Rimante Cerkauskiene, Arvydas Laurinavicius, Augustina Jankauskiene
BACKGROUND: The significance of IgM deposits in glomerular mesangium has been controversial since they were first described due to the variations in the both the definitions used and described impact on clinical outcome. The aim of our study was to evaluate the significance of the IgM deposits in the glomerular mesangium for outcomes of nephrotic syndrome (NS) in children. METHODS: Forty-five children with NS who underwent renal biopsy at tertiary pediatric hospital from January 1st, 2000 to December 31st, 2015 and the pathology diagnosis of minimal change disease, focal segmental glomerulosclerosis and mesangial hypercellularity (MH) were retrospectively analyzed...
August 3, 2017: BMC Nephrology
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