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Renal genetics

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https://www.readbyqxmd.com/read/28522688/polycystic-kidney-disease-without-an-apparent-family-history
#1
Ioan-Andrei Iliuta, Vinusha Kalatharan, Kairong Wang, Emilie Cornec-Le Gall, John Conklin, Marina Pourafkari, Ryan Ting, Chen Chen, Alessia C Borgo, Ning He, Xuewen Song, Christina M Heyer, Sarah R Senum, Young-Hwan Hwang, Andrew D Paterson, Peter C Harris, Korosh Khalili, York Pei
The absence of a positive family history (PFH) in 10%-25% of patients poses a diagnostic challenge for autosomal dominant polycystic kidney disease (ADPKD). In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease, 210 affected probands underwent renal function testing, abdominal imaging, and comprehensive PKD1 and PKD2 mutation screening. From this cohort, we reviewed all patients with and without an apparent family history, examined their parental medical records, and performed renal imaging in all available parents of unknown disease status...
May 18, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28522145/wnt-signaling-a-novel-pathway-regulating-blood-pressure-state-of-the-art-review
#2
REVIEW
Maen D Abou Ziki, Arya Mani
Recent antihypertensive trials show conflicting results on blood pressure (BP) targets in patient populations with different metabolic profiles, with lowest benefit from tight BP control observed in patients with type 2 diabetes mellitus. This paradox could arise from the heterogeneity of study populations and underscores the importance of precision medicine initiatives towards understanding and treating hypertension. Wnt signaling pathways and genetic variations in its signaling peptides have been recently associated with metabolic syndrome, hypertension and diabetes, generating a breakthrough for advancement of precision medicine in the field of hypertension...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28515179/arginase-2-mediates-renal-ischemia-reperfusion-injury
#3
Wesley M Raup-Konsavage, Ting Gao, Timothy K Cooper, Sidney M Morris, W Brian Reeves, Alaa S Awad
Novel therapeutic interventions for preventing or attenuating kidney injury following ischemia/reperfusion injury (IRI) remain a focus of significant interest. Currently, there are no definitive therapeutic or preventive approaches available for ischemic acute kidney injury (AKI). Our objective is to determine (a) whether renal arginase activity or expression is increased in renal IRI and (b) whether arginase plays a role in development of renal IRI. The impact of arginase activity and expression on renal damage was evaluated in male C57BL/6J (WT) and arginase-2 deficient (Arg2(-/-) ) mice subjected to bilateral renal ischemia for 28min followed by reperfusion for 24h...
May 17, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28515156/anti-glomerular-basement-membrane-disease
#4
Stephen P McAdoo, Charles D Pusey
Anti-glomerular basement membrane (anti-GBM) disease is a rare small vessel vasculitis that affects the capillary beds of the kidneys and lungs. It is an archetypic autoimmune disease, caused by the development of directly pathogenic autoantibodies targeting a well characterized autoantigen expressed in the basement membranes of these organs, although the inciting events that induce the autoimmune response are not fully understood. The recent confirmation of spatial and temporal clustering of cases suggests that environmental factors, including infection, may trigger disease in genetically susceptible individuals...
May 17, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28512290/evolution-of-drug-resistant-acinetobacter-baumannii-after-dcd-renal-transplantation
#5
Hong Jiang, Luxi Cao, Lihui Qu, Tingting Qu, Guangjun Liu, Rending Wang, Bingjue Li, Yuchen Wang, Chaoqun Ying, Miao Chen, Yingying Lu, Shi Feng, Yonghong Xiao, Junwen Wang, Jianyong Wu, Jianghua Chen
Infection after renal transplantation remains a major cause of morbidity and death, especially infection from the extensively drug-resistant bacteria, A. baumannii. A total of fourteen A. baumannii isolates were isolated from the donors' preserved fluid from DCD (donation after cardiac death) renal transplantation and four isolates in the recipients' draining liquid at the Kidney Disease Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, from March 2013 to November 2014. An outbreak of A...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28509138/juvenile-nephronophthisis-and-dysthyroidism-a-rare-association
#6
Fateme Shamekhi Amiri, Ariana Kariminejad
Nephronophthisis, an autosomal recessive kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. A 27-year-old male was presented with gait imbalance, sever pruritus since 10 days prior time of admission. In past medical history, he had bilateral cataract, torsional nystagmus, and bilateral optic nerve atrophy since 2 years of age. He was also mentioned history of multinodular goiter with dysfunctional thyroid state since 2 years before admission...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28509134/two-cases-of-atypical-hemolytic-uremic-syndrome-ahus-and-eosinophilic-granulomatosis-with-polyangiitis-egpa-a-possible-relationship
#7
Mercedes Cao, Tamara Ferreiro, Bruna N Leite, Francisco Pita, Luis Bolaños, Francisco Valdés, Angel Alonso, Eduardo Vázquez, Juan Mosquera, María Trigás, Santiago Rodríguez
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by hemolysis, thrombocytopenia, and renal failure. It is related to genetic mutations of the alternative complement pathway and is difficult to differentiate from other prothrombotic microangiopathies. Eosinophilic granulomatosis with polyangiitis (EGPA) (Churg-Strauss syndrome, CSS) is a systemic ANCA-associated vasculitis and a hypereosinophilic disorder where eosinophils seem to induce cell apoptosis and necrosis and therefore, vasculitis...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28509124/metastatic-renal-cell-carcinoma-with-undetectable-renal-mass-presenting-as-lymphadenopathy
#8
Mohamed Salah Fayaz, Aishah Ebrahim Al-Qaderi, Mustafa Shawki El-Sherify
Renal cell carcinoma has the ability to metastasize to any organ; about 16 % of affected patients present initially with metastasis. However, it is rare for this tumor to present with metastasis from an unidentified primary. The current use of immunohistochemistry and molecular genetics has enabled clinicians to reach a precise diagnosis. It has been hypothesized that the treatment protocol for metastatic renal cell carcinoma can be applied to cases with undetectable primary. In this paper, a novel case of metastatic renal cell carcinoma presenting with lymphadenopathy with no evidence of a primary renal lesion is reported from Kuwait cancer center...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28508969/five-year-follow-up-of-a-case-of-lipoprotein-glomerulopathy-with-apoe-kyoto-mutation
#9
Ryosuke Usui, Masaki Takahashi, Kosaku Nitta, Minako Koike
We report the case of a 34-year-old Japanese male with lipoprotein glomerulopathy (LPG). Renal biopsy showed LPG, and followed by a genetic analysis revealed a mutation in apolipoprotein E gene (APOE Kyoto; Arg25Cys). We started treatment with probucol, bezafibrate, losartan, and allopurinol. Urinary protein decreased in response to treatment but has remained at about 1.27 ± 0.71 g/gCr, and a repeat biopsy which was performed 1 year after the first biopsy showed no clear evidence of pathological remission and complication of other glomerular disease...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28507907/effectiveness-of-enzyme-replacement-therapy-in-fabry-disease-long-term-experience-in-argentina
#10
Gustavo Cabrera, Juan Politei, Norberto Antongiovani, Hernán Amartino
Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters. METHODS: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Renal, cardiac, and cerebral outcomes were prospectively studied in patients treated with ERT...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28506759/complement-c1q-is-hydroxylated-by-collagen-prolyl-4-hydroxylase-and-is-sensitive-to-off-target-inhibition-by-prolyl-hydroxylase-domain-inhibitors-that-stabilize-hypoxia-inducible-factor
#11
Serafim Kiriakidis, Simon S Hoer, Natalie Burrows, Gloria Biddlecome, Moddasar N Khan, Cyrille C Thinnes, Christopher J Schofield, Norma Rogers, Marina Botto, Ewa Paleolog, Patrick H Maxwell
Complement C1q is part of the C1 macromolecular complex that mediates the classical complement activation pathway: a major arm of innate immune defense. C1q is composed of A, B, and C chains that require post-translational prolyl 4-hydroxylation of their N-terminal collagen-like domain to enable the formation of the functional triple helical multimers. The prolyl 4-hydroxylase(s) that hydroxylate C1q have not previously been identified. Recognized prolyl 4-hydroxylases include collagen prolyl-4-hydroxylases (CP4H) and the more recently described prolyl hydroxylase domain (PHD) enzymes that act as oxygen sensors regulating hypoxia-inducible factor (HIF)...
May 12, 2017: Kidney International
https://www.readbyqxmd.com/read/28503551/a-case-of-fibrillary-glomerulonephritis-with-fibril-deposition-in-the-arteriolar-wall-and-a-family-history-of-renal-disease
#12
Kentaro Watanabe, Kentaro Nakai, Nozomi Hosokawa, Shuhei Watanabe, Keiji Kono, Shunsuke Goto, Hideki Fujii, Shigeo Hara, Shinichi Nishi
Herein, we report a case of fibrillary glomerulonephritis (FGN). FGN usually shows non-amyloidal fibrils in the mesangium and glomerular capillary walls on electron microscopy. Inherited cases of FGN have been reported in only 3 families, and the suspected genetic form was autosomal dominant. In the present case, the deposition of microfibrils in the arteriolar wall as well as the glomerulus is unique. Our patient's father died of nephrotic syndrome, and his elder brother had a biopsy-proven glomerulopathy...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28503092/management-of-gene-variants-of-unknown-significance-analysis-method-and-risk-assessment-of-the-vhl-mutation-p-p81s-c-241c-t
#13
REVIEW
Daniela Alosi, Marie Luise Bisgaard, Sophie Nowak Hemmingsen, Lotte Nylandsted Krogh, Hanne Birte Mikkelsen, Marie Louise Mølgaard Binderup
BACKGROUND: Evaluation of the pathogenicity of a gene variant of unknown significance (VUS) is crucial for molecular diagnosis and genetic counseling, but can be challenging. This is especially so in phenotypically variable diseases, such as von Hippel-Lindau disease (vHL). vHL is caused by germline mutations in the VHL gene, which predispose to the development of multiple tumors such as central nervous system hemangioblastomas and renal cell carcinoma (RCC). OBJECTIVE: We propose a method for the evaluation of VUS pathogenicity through our experience with the VHL missense mutation c...
February 2017: Current Genomics
https://www.readbyqxmd.com/read/28502971/targeting-the-keap1-nrf2-system-to-prevent-kidney-disease-progression
#14
Masahiro Nezu, Norio Suzuki, Masayuki Yamamoto
BACKGROUND: Nuclear factor erythroid 2-related factor 2 (NRF2) is a critical transcription factor for the antioxidative stress response and it activates a variety of cytoprotective genes related to redox and detoxification. NRF2 activity is regulated by the oxidative-stress sensor molecule Kelch-like ECH-associated protein 1 (KEAP1) that induces proteasomal degradation of NRF2 through ubiquitinating NRF2 under unstressed conditions. Because oxidative stress is a major pathogenic and aggravating factor for kidney diseases, the KEAP1-NRF2 system has been proposed to be a therapeutic target for renal protection...
May 13, 2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28502323/a-case-report-on-the-exceptional-coincidence-of-two-inherited-renal-disorders-adpkd-and-alport-syndrome%C3%A2
#15
Kathrin Ebner, Nadine Reintjes, Markus Feldkötter, Friederike Körber, Mato Nagel, Jörg Dötsch, Bernd Hoppe, Lutz Thorsten Weber, Bodo B Beck, Max C Liebau
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of dialysis-requiring end-stage renal disease in adults and is characterized by the slowly progressing replacement of renal tissue by focal macrocysts. Alport syndrome (AS; hereditary nephritis) is a rare, inherited disorder of the basement membrane associated with hematuria, proteinuria, and loss of kidney function as well as sensorineural hearing loss and ocular abnormalities. Here, we report on a family in which both ADPKD and AS are present...
May 15, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28501388/association-between-metabolic-syndrome-and-chronic-kidney-disease-in-a-chinese-urban-population
#16
Juan Chen, Xianglei Kong, Xiaoyan Jia, Wenbin Li, Zunsong Wang, Meiyu Cui, Dongmei Xu
BACKGROUND: Few studies have examined the relationships between the prevalence of chronic kidney disease (CKD) and the metabolic risk factors in a developing country such as China, where genetic and environmental backgrounds differ from those in Western countries. METHODS: The subjects of this cross-sectional study were the individuals from 18 to 92y. The metabolic syndrome (MetS) was defined based on the criteria of Adult Treatment Panel Third Report (ATP III), but using body mass index (BMI) instead of waist circumference...
May 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28500604/a-primer-to-angiotensin-peptide-isolation-stability-and-analysis-by-nano-liquid-chromatography-with-mass-detection
#17
Mariola Olkowicz, Stefan Chlopicki, Ryszard T Smolenski
The renin-angiotensin system (RAS) is an important element of cardiovascular and renal physiology and targeting the RAS by renin inhibitors, angiotensin (Ang) converting enzyme (ACE) inhibitors and Ang II type 1 receptor antagonists is effective in the treatment of hypertension, heart failure, and atherosclerosis. Quantification of Ang peptides is critical to establish the status of the RAS, but it is challenging due to low Ang peptides concentrations (fmol/mL or fmol/g), abundance of interfering substances, post sampling conversions, and difficulties with the specificity of the assay...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28499424/ultrastructural-deposits-appearing-as-zebra-bodies-in-renal-biopsy-fabry-disease-comparative-case-reports
#18
Precil Diego Miranda de Menezes Neves, Juliana Reis Machado, Fabiano Bichuette Custódio, Maria Luíza Gonçalves Dos Reis Monteiro, Shigueo Iwamoto, Marlene Freire, Marisa França Ferreira, Marlene Antônia Dos Reis
BACKGROUND: Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced renal phospholipidosis. CASE PRESENTATION: Case 1: A 28-year-old female patient with systemic lupus erythematosus who had been using hydroxychloroquine for 14 months presented subnephrotic proteinuria. Renal biopsy showed deposits compatible with FD...
May 12, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#19
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28499019/t-cadherin-gene-variants-are-associated-with-nephropathy-in-subjects-with-type-1-diabetes
#20
Anthony Nicolas, Kamel Mohammedi, Jean-Philippe Bastard, Soraya Fellahi, Naima Bellili-Muñoz, Ronan Roussel, Samy Hadjadj, Michel Marre, Gilberto Velho, Frédéric Fumeron
Background.: High plasma adiponectin levels are associated with diabetic nephropathy (DN). T-cadherin gene ( CDH13 ) variants have been shown to be associated with adiponectin levels. We investigated associations between allelic variations of CDH13 and DN in subjects with type 1 diabetes. Methods.: Two CDH13 polymorphisms were analysed in 1297 Caucasian subjects with type 1 diabetes from the 'Survival Genetic Nephropathy' (SURGENE) ( n = 340, 10-year follow-up), 'Genesis France-Belgium' (GENESIS) ( n = 501, 5-year follow-up for n = 462) and 'Génétique de la Néphropathie Diabétique' (GENEDIAB) ( n = 456, 9-year follow-up for n = 283) cohorts...
May 12, 2017: Nephrology, Dialysis, Transplantation
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