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syndrome nephrotic

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https://www.readbyqxmd.com/read/29786186/-ebv-associated-pneumonia-in-patient-with-granulomatosis-with-polyangiitis-gpa-in-immunosoppressive-therapy-treated-with-aciclovir
#1
Nicola Mongera, Vittorio Di Maso, Elisabetta Ermacora, Michele Carraro, Cristina Bregant, Martina Pian, Umberto Savi, Eric Lorenzon, Giuliano Boscutti
We describe the case of a 74-year-old man admitted to our Nephrology Unit with nephrotic syndrome and mild kidney disease. A complete panel of laboratoristic and instrumental tests did not provide useful information for diagnosis. No specific signs or symptoms suggested the presence of AL amyloidosis. As a matter of fact, diagnosis was reached thanks to the hystopathologic examination of renal tissue and bone marrow, since the associated B-cell lymphoproliferative disorder had not revealed itself through serum and urine electrophoresis and immunofixation...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29786185/-an-unusual-presentation-of-amyloidosis-al
#2
Anna Zito, Antonio De Pascalis, Paolo Ria, Annarita Armeni, Alessandro D'Amelio, Marcello Napoli
We describe the case of a 74-year-old man admitted to our Nephrology Unit with nephrotic syndrome and mild kidney disease. A complete panel of laboratoristic and instrumental tests did not provide useful information for diagnosis. No specific signs or symptoms suggested the presence of AL amyloidosis. As a matter of fact, diagnosis was reached thanks to the hystopathologic examination of renal tissue and bone marrow, since the associated B-cell lymphoproliferative disorder had not revealed itself through serum and urine electrophoresis and immunofixation...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29786149/national-survey-found-that-managing-childhood-nephrotic-syndrome-in-nigeria-varied-widely-and-did-not-comply-with-the-best-evidence
#3
Christopher I Esezobor, Adanze O Asinobi, Henrietta U Okafor, Rosamund Akuse, Rasheed Gbadegesin
AIM: This study explored any variations in managing childhood nephrotic syndrome between specialist centres in Nigeria and how closely the care reflected the best available evidence. METHODS: In 2016 the heads of Nigerian paediatric nephrology units were asked to complete a study questionnaire that focused on managing nephrotic syndrome. RESULTS: Of the 31 clinicians we approached, 81% returned the completed questionnaire. The majority (64%) had received paediatric nephrology training and 40% had practised for at least 10 years...
May 22, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29785489/trpc6-inactivation-confers-protection-in-a-model-of-severe-nephrosis-in-rats
#4
Eun Young Kim, Parisa Yazdizadeh Shotorbani, Stuart E Dryer
Mutations in canonical transient receptor potential-6 (TRPC6) channels give rise to rare familial forms of focal and segmental glomerulosclerosis (FSGS). Here we examined a possible role for TRPC6 in the progression of chronic puromycin aminonucleoside (PAN) nephrosis in Sprague-Dawley rats, a classic model of acquired nephrotic syndromes. We used CRISPR/Cas9 technology to delete a 239-bp region within exon 2 of the Trpc6 gene (Trpc6del allele). Trpc6del/del rats expressed detectable Trpc6 transcripts missing exon 2, and TRPC6 proteins could be detected by immunoblot of renal cortex...
May 22, 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29784613/cryoglobulinemic-glomerulonephritis-associated-with-nodal-and-renal-infiltration-by-t-cell-lymphoma-of-t-follicular-helper-phenotype-a-case-report
#5
Jennifer Li, Marille Umakanathan, Chow Heok P'ng, Winny Varikatt, Fiona Kwok, Ming-Wei Lin, Mirna Vucak-Dzumhur
We present a unique case of cryoglobulinemic glomerulonephritis associated with nodal and renal infiltration by T-cell lymphoma of T-follicular helper phenotype. The patient presented with transient neurologic symptoms, severe nephritic syndrome with nephrotic-range proteinuria, and acute kidney injury. He had elevated double-stranded DNA levels, low complement levels, detectable cryoglobulin, and detectable immunoglobulin M (IgM) paraprotein. The kidney biopsy showed cryoglobulinemic glomerulonephritis with a membranoproliferative pattern and diffuse interstitial infiltrates on light microscopy; IgM, C3 but weak IgG, C1q, and negative C4d staining on immunofluorescence; and deposits with organized substructures on electron microscopy...
May 18, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#6
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29782000/induction-of-nephrotic-syndrome-in-mice-by-retrobulbar-injection-of-doxorubicin-and-prevention-of-volume-retention-by-sustained-release-aprotinin
#7
Bernhard N Bohnert, Ferruh Artunc
Nephrotic syndrome is the most extreme manifestation of proteinuric kidney disease and characterized by heavy proteinuria, hypoalbuminemia, and edema due to sodium retention and hyperlipidemia. To study the pathophysiology of this syndrome, rodent models have been developed based on the injection of toxic substances such as doxorubicin causing podocyte damage. In mice, only few strains are susceptible to this model. In wildtype 129S1/SvImJ mice, the administration of doxorubicin by rapid intravenous injection to the retrobulbar sinus induces experimental nephrotic syndrome that features all the symptoms of human disease including sodium retention and edema...
May 6, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29775447/-mycophenolate-mofetil-mmf-as-the-first-choice-immunosuppressive-drug-in-treatment-of-steroid-dependent-nephrotic-syndrome-in-children
#8
Iwona Ogarek, Elżbieta Szczęsny-Choruz, Ewa Wierzchowska-Słowiaczek, Joanna Kwinta-Rybicka, Zofia Stec, Anna Moczulska, Katarzyna Wilkosz, Dorota Drożdż
Most children diagnosed with nephrotic syndrome show favourable response to corticosteroid therapy, nonetheless 30% of patients have frequent relapses or a steroid-dependent course of disease. Cyclophosphamide, cyclosporin A or MMF are being used in treatment of steroid-dependent nephrotic syndrome in search of a drug with highest long-term effectiveness and least amount of side effects. AIM: The aim of study was to assess of the efficacy of MMF as the first choice immunosuppressive drug in children with nephrotic syndrome after determining a steroid-dependency...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29775445/the-clinical-pattern-of-nephrotic-syndrome-in-children-has-no-effect-on-the-concentration-of-soluble-urokinase-receptor-supar-in-serum-and-urine
#9
Agnieszka Ochocińska, Wioletta Jarmużek, Roman Janas
Concentration of soluble urokinase receptor (suPAR) was regarded as viable marker to differentiate the focal segmental glomerulosclerosis (FSGS) from other glomerulopathies and also as predictive parameter for progression of renal disease. AIM: The aim of this study was to evaluate serum and urine (s)(u)suPAR concentration in steroid-sensitive and steroid-resistant nephrotic children treated with different (double and triple-drug) regimens. MATERIALS AND METHODS: Overall 43 children were evaluated including 14 patients with steroid-resistant nephrotic syndrome (SRNS) aged 9±6 years and 29 with steroid-sensitive nephrotic syndrome (SSNS) aged 9±5 years, as well as control group (n=59)...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29775082/profile-of-renal-aa-amyloidosis-in-older-and-younger-individuals-a-single-centre-experience
#10
Siyar Erdogmus, Zeynep Kendi Celebi, Serkan Akturk, Gizem Kumru, Neval Duman, Kenan Ates, Sehsuvar Erturk, Gokhan Nergizoglu, Sim Kutlay, Sule Sengul, Kenan Keven
OBJECTIVE: In epidemiological studies of amyloid A (AA) amyloidosis from Turkey, the most frequently cause was familial Mediterranean fever (FMF) and it occurs generally in young age population. However, there are no sufficient data regarding aetiology, clinical presentation and prognosis of renal AA amyloidosis in advanced age patients. In this study, we aimed to investigate demographic, clinical presentation, aetiology and outcomes of adults aged 60 years or older patients with biopsy-proven renal AA amyloidosis...
May 18, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/29773874/mutations-in-six-nephrosis-genes-delineate-a-pathogenic-pathway-amenable-to-treatment
#11
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate...
May 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29769504/dipstick-method-versus-spot-urinary-protein-creatinine-ratio-for-evaluation-of-massive-proteinuria-in-childhood-nephrotic-syndrome
#12
M N Sultana, B Majumder, M J Rahman, A M Moniruzzaman, A M Suja, M E Ali, Z H Sarker, S N Nabi, M A Mostakim
Measurement of massive proteinuria is vital for diagnosis of childhood Nephrotic syndrome. Quantification of 24 hours urinary protein is the gold standard test. Dipstick method of urinary protein measurement gives instant result for massive proteinuria. Spot urinary protein creatinine ratio measurement is variable. This was a hospital based prospective cross sectional study done at Department of Paediatric Nephrology, Rangpur Medical College Hospital from January 2014 to December 2015 to evaluate accuracy of dipstick method versus spot urinary protein-creatinine ratio in estimation of massive proteinuria in childhood nephrotic syndrome...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#13
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29766468/gemcitabine-induced-thrombotic-microangiopathy-with-nephrotic-syndrome
#14
Daisuke Katagiri, Fumihiko Hinoshita
We encountered a case of gemcitabine (GEM)-induced secondary thrombotic microangiopathy (TMA) with nephrotic syndrome. Advanced pancreatic cancer with liver metastasis had originally been diagnosed. Renal biopsy showed focal reduplication of the glomerular basement membrane, endothelial cell swelling, and narrowed capillary lumens with fragmented erythrocytes and fibrin deposition, compatible with TMA. Regular monitoring of renal function during GEM treatment and discontinuation of treatment if acute kidney injury (AKI) might occur is crucial, because AKI combined with TMA is life-threatening...
May 15, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29766466/concurrent-isolated-igg2-positive-membranous-nephropathy-and-malignant-b-cell-lymphoma
#15
Satoshi Shimada, Takashi Nakamichi, Gen Yamada, Kaori Narumi, Hajime Usubuchi, Tae Yamamoto, Satoshi Ichikawa, Noriko Fukuhara, Mariko Miyazaki, Hideo Harigae, Hiroshi Sato, Sadayoshi Ito
A recent systematic review showed that hematological malignancy is often complicated by membranous nephropathy (MN). Histologically, the deposition of IgG subclasses other than IgG4 may imply secondary MN, such as malignancy-associated MN (M-MN). We describe a very rare case of concurrent isolated IgG2-positive MN and B-cell lymphoma. An 83-year-old woman was hospitalized at our institute for facial and lower extremity edema persisting for 2 months. Laboratory tests showed urinary protein level of 10.8 g/day, serum albumin level of 1...
May 15, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29756426/nephrotic-syndrome-in-a-patient-with-visceral-leishmaniasis-a-case-report
#16
T A D Tilakaratne, I W G A L Malhasi, A Rathnathilaka
No abstract text is available yet for this article.
March 31, 2018: Ceylon Medical Journal
https://www.readbyqxmd.com/read/29753405/cardiovascular-disease-risk-in-children-with-kidney-disease
#17
REVIEW
Christine B Sethna, Kumail Merchant, Abigail Reyes
Cardiovascular disease is a major cause of death in individuals diagnosed with kidney disease during childhood. Children with kidney disease often incur a significant cardiovascular burden that leads to increased risk for cardiovascular disease. Evidence has shown that children with kidney disease, including chronic kidney disease, dialysis, kidney transplantation, and nephrotic syndrome, develop abnormalities in cardiovascular markers such as hypertension, dyslipidemia, left ventricular hypertrophy, left ventricular dysfunction, atherosclerosis, and aortic stiffness...
May 2018: Seminars in Nephrology
https://www.readbyqxmd.com/read/29750317/mycophenolate-mofetil-for-sustained-remission-in-nephrotic-syndrome
#18
Uwe Querfeld, Lutz T Weber
The clinical application of mycophenolate mofetil (MMF) has significantly widened beyond the prophylaxis of acute and chronic rejections in solid organ transplantation. MMF has been recognized as an excellent treatment option in many immunologic glomerulopathies. For children with frequently relapsing nephrotic syndrome (FRNS) or steroid-dependent nephrotic syndrome (SDNS) experiencing steroid toxicity, MMF has been recommended as a steroid-sparing drug. Uncontrolled studies in patients with FRNS and SDSN have shown that many patients can achieve sustained remission of proteinuria with MMF monotherapy...
May 11, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29748623/plasma-microrna-panel-is-a-novel-biomarker-for-focal-segmental-glomerulosclerosis-and-associated-with-podocyte-apoptosis
#19
Bin Xiao, Li-Na Wang, Wei Li, Li Gong, Ting Yu, Qian-Fei Zuo, Hong-Wen Zhao, Quan-Ming Zou
Focal segmental glomerulosclerosis (FSGS) is a frequent glomerular disease, and is the common cause of nephrotic syndrome. However, there is no validated diagnostic blood biomarker for FSGS. Here, we performed a real-time PCR-based high-throughput miRNA profiling to identify the plasma signature for FSGS. We found four miRNAs (miR-17, miR-451, miR-106a, and miR-19b) were significantly downregulated in the plasma of FSGS patients (n = 97) compared with healthy controls (n = 124) in the training, validation, and blinded-test phases...
May 10, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29740794/focal-segmental-glomerulosclerosis-with-heterozygous-apolipoprotein-e5-glu3lys
#20
Masaru Sasaki, Tetsuhiko Yasuno, Kenji Ito, Akira Matsunaga, Satoshi Hisano, Yasuhiro Abe, Katsuhisa Miyake, Kosuke Masutani, Hitoshi Nakashima, Takao Saito
Apolipoprotein (apo) E5 is a rare apoE isoform. The apoE5 (Glu3Lys) variant, which is caused by the substitution of lysine with glutamic acid at codon 3, has a relative frequency of 0.1% in Japan. Previous studies have reported that apoE5 (Glu3Lys) is associated with hyperlipidemia and cardiovascular diseases, but this isoform has higher LDL receptor-binding activity than that of normal apoE3. Nephropathy associated with apoE5 (Glu3Lys) alone has not yet been reported. We present a case of a 51-year-old man with nephrotic syndrome...
May 8, 2018: CEN Case Reports
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