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Genetic kidney disease

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https://www.readbyqxmd.com/read/28095803/increased-glomerulonephritis-recurrence-after-living-related-donation
#1
A L Kennard, S H Jiang, G D Walters
BACKGROUND: Kidney transplantation confers superior outcomes for patients with end stage kidney disease, and live donor kidneys associate with superior outcomes compared to deceased donor kidneys. Modern immunosuppression has improved rejection rates and transplant survival and, as a result, recurrence of glomerulonephritis has emerged as a major cause of allograft loss. However, many glomerulonephritides have significant genetic risk which may manifest through kidney intrinsic or systemic mechanisms...
January 17, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28095793/genetic-variation-underlying-renal-uric-acid-excretion-in-hispanic-children-the-viva-la-familia-study
#2
Geetha Chittoor, Karin Haack, Nitesh R Mehta, Sandra Laston, Shelley A Cole, Anthony G Comuzzie, Nancy F Butte, V Saroja Voruganti
BACKGROUND: Reduced renal excretion of uric acid plays a significant role in the development of hyperuricemia and gout in adults. Hyperuricemia has been associated with chronic kidney disease and cardiovascular disease in children and adults. There are limited genome-wide association studies associating genetic polymorphisms with renal urate excretion measures. Therefore, we investigated the genetic factors that influence the excretion of uric acid and related indices in 768 Hispanic children of the Viva La Familia Study...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28091412/incidence-development-and-prognosis-of-diabetic-kidney-disease-in-china-design-and-methods
#3
Yao-Zheng Yang, Jin-Wei Wang, Fang Wang, Yun-Tao Wu, Hai-Yan Zhao, Min Chen, Lu-Xia Zhang, Shou-Ling Wu, Ming-Hui Zha
BACKGROUND: Although that glomerulonephritis is the major cause of end-stage renal disease in developing countries such as China, the increasing prevalence of diabetes has contributed to the changing spectrum of predialysis chronic kidney disease. Recent studies have revealed an increased proportion of patients with diabetic kidney disease (DKD) in hemodialysis populations in large cities in China. However, studies regarding the clinical phenotype of DKD in China are extremely limited...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28078995/sphingolipids-in-genetic-and-acquired-forms-of-chronic-kidney-diseases
#4
Norishi Ueda
Sphingolipids (SLs) regulate apoptosis, proliferation, and stress response. SLs, including ceramide, glycosphingolipids (glucosylceramide, lactosylceramide, and gangliosides) and sphingosine-1-phosphate (S1P), play a role in the pathogenesis and progression of genetic (lysosomal storage disease, congenital nephrotic syndrome and polycystic kidney disease) and non-genetic forms of chronic kidney diseases (CKDs). SLs metabolism defects promote complications (cardiovascular events, etc.) via oxidant stress in CKDs...
January 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28076340/telomere-length-assessment-for-prediction-of-organ-transplantation-outcome-future-or-failure-a-review-of-the-literature
#5
Karolina Kłoda, Leszek Domański, Artur Mierzecki
Telomeres are located at each end of eukaryotic chromosomes. Their functional role is genomic stability maintenance. The protective role of telomeres depends on various factors, including number of nucleotides repeats, telomere-binding proteins, and telomerase activity. Organ transplantation is the preferred replacement therapy in the case of chronic kidney disease and the only possibility of sustaining recipients' life in the case of advanced liver failure. While the prevalence of acute rejection is constantly decreasing, prevention of transplanted organ long-term function loss is still challenging...
January 11, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28072736/von-hippel-lindau-disease-involving-pancreas-and-biliary-system-a-rare-case-report
#6
Xu-Ting Zhi, Qi-Yu Bo, Feng Zhao, Dong Sun, Tao Li
RATIONALE: Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. VHL patients are prone to develop benign and malignant tumors and cysts in multiple organ systems involving kidneys, pancreas and central nervous system (CNS). The varied and complex clinical manifestations and radiological findings of VHL are of interest. PATIENT CONCERNS: We report a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28070114/development-of-database-and-genomic-medicine-for-von-hippel-lindau-disease-in-japan
#7
Shunsaku Takayanagi, Akitake Mukasa, Hirofumi Nakatomi, Hiroshi Kanno, Jun-Ichi Kuratsu, Ryo Nishikawa, Kazuhiko Mishima, Atushi Natsume, Toshihiko Wakabayashi, Kiyohiro Houkin, Shunsuke Terasaka, Masahiro Yao, Nobuo Shinohara, Taro Shuin, Nobuhito Saito
von Hippel-Lindau (VHL) disease is a hereditary tumor disease in which tumors develop in multiple organs, not only as hemangioblastomas (HBs) in the central nervous system, but also as kidney tumors, pheochromocytomas, and so on. Much about the epidemiology of VHL disease remained unknown until fairly recently in Japan, leading to calls for the establishment of a VHL disease epidemiological database in Japanese. To elucidate its epidemiology in Japan, the Japanese Ministry of Health, Labour and Welfare created the VHL Disease Study Group, which was put in charge of carrying out a nationwide epidemiological survey...
January 6, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28064215/pathophysiological-mechanisms-of-renal-fibrosis-a-review-of-animal-models-and-therapeutic-strategies
#8
REVIEW
António Nogueira, Maria João Pires, Paula Alexandra Oliveira
Chronic kidney disease (CKD) is a long-term condition in which the kidneys do not work correctly. It has a high prevalence and represents a serious hazard to human health and estimated to affects hundreds of millions of people. Diabetes and hypertension are the two principal causes of CKD. The progression of CKD is characterized by the loss of renal cells and their replacement by extracellular matrix (ECM), independently of the associated disease. Thus, one of the consequences of CKD is glomerulosclerosis and tubulointerstitial fibrosis caused by an imbalance between excessive synthesis and reduced breakdown of the ECM...
January 2017: In Vivo
https://www.readbyqxmd.com/read/28063381/brd4-inhibition-attenuates-unilateral-ureteral-obstruction-induced-fibrosis-by-blocking-tgf-%C3%AE-mediated-nox4-expression
#9
Baoshang Zhou, Jiao Mu, Yi Gong, Caibao Lu, Youguang Zhao, Ting He, Zhexue Qin
Uncovering new therapeutic targets for renal fibrosis holds promise for the treatment of chronic kidney diseases. Bromodomain and extra-terminal (BET) protein inhibitors have been shown to effectively ameliorate pathological fibrotic responses. However, the pharmacological effects and underlying mechanisms of these inhibitors in renal fibrosis remain elusive. In this study, we determined that the inhibition of Brd4, a BET family member, with a selective potent chemical inhibitor, JQ1, could prevent the development of renal fibrosis and block the progression of fibrosis in rats that have undergone unilateral ureteral obstruction (UUO)...
December 30, 2016: Redox Biology
https://www.readbyqxmd.com/read/28058212/complement-related-kidney-diseases-recurrence-after-transplantation
#10
REVIEW
Maurizio Salvadori, Elisabetta Bertoni
The recurrence of renal disease after renal transplantation is becoming one of the main causes of graft loss after kidney transplantation. This principally concerns some of the original diseases as the atypical hemolytic uremic syndrome (HUS), the membranoproliferative glomerulonephritis (MPGN), in particular the MPGN now called C3 glomerulopathy. Both this groups of renal diseases are characterized by congenital (genetic) or acquired (auto-antibodies) modifications of the alternative pathway of complement...
December 24, 2016: World Journal of Transplantation
https://www.readbyqxmd.com/read/28050009/co-expression-analysis-of-blood-cell-genome-expression-to-preliminary-investigation-of-regulatory-mechanisms-in-uremia
#11
Liu Cheng, Wu Yonggui
BACKGROUND Uremia involves a series of clinical manifestations and is a common syndrome that occurs in nearly all end-stage kidney diseases. However, the exact genetic and/or molecular mechanisms that underlie uremia remain poorly understood. MATERIAL AND METHODS In this case-control study, we analyzed whole-genome microarray of 75 uremia patients and 20 healthy controls to investigate changes in gene expression and cellular mechanisms relevant to uremia. Gene co-expression network analysis was performed to construct co-expression networks using differentially expressed genes (DEGs) in uremia...
January 4, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28043398/col4a1-mutation-in-a-neonate-with-intrauterine-stroke-and-anterior-segment-dysgenesis
#12
Shaheen Durrani-Kolarik, Kandamurugu Manickam, Bernadette Chen
BACKGROUND: COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities. PATIENT DESCRIPTION: We describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28035470/the-clinical-and-laboratory-features-of-chinese-han-anti-factor-h-autoantibody-associated-hemolytic-uremic-syndrome
#13
Di Song, Xiao-Rong Liu, Zhi Chen, Hui-Jie Xiao, Jie Ding, Shu-Zhen Sun, Hong-Yan Liu, Wei-Yi Guo, Su-Xia Wang, Feng Yu, Ming-Hui Zhao
BACKGROUND: Anti-complement factor H (CFH) autoantibody-associated hemolytic uremic syndrome (HUS) is a severe sub-type of HUS. METHODS: We assessed the clinical and renal pathological features, circulating complement levels, and genetic background of Chinese pediatric patients with this sub-type of HUS. Thirty-three consecutive patients with acute kidney injury who tested positive for serum anti-CFH autoantibodies were enrolled in this study. RESULTS: All of the eight patients who underwent renal biopsies presented with changes typical of thrombotic microangiopathy, especially changes in chronic characteristics...
December 29, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28033104/micronuclei-and-other-nuclear-anomalies-in-buccal-epithelial-cells-of-children-with-chronic-kidney-disease
#14
Banu Aykanat, Gonca Cakmak Demircigil, Necla Buyan, Esra Baskin, Kaan Gulleroglu, Kibriya Fidan, Umut Selda Bayrakci, Aydin Dalgic, Hamdi Karakayali, Mehmet Haberal, Sema Burgaz
The objective of this study was to reveal the likely genomic instability in children with chronic kidney disease (CKD) using micronucleus (MN) assay on buccal epithelial cells (BEC). We investigated the frequencies of micronuclei and other nuclear anomalies, such as nuclear buds, binucleated cells, condensed chromatin, and karyorrhectic and pyknotic cells in BEC. Children with CKD were grouped as follows: children in the pre-dialysis (PreD) stage (N=17), children on regular haemodialysis (HD) (N=14), and children who have undergone transplantation (Tx) (N=17)...
December 1, 2016: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#15
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28028615/podocyte-number-and-density-changes-during-early-human-life
#16
Masao Kikuchi, Larysa Wickman, Raja Rabah, Roger C Wiggins
BACKGROUND: Podocyte depletion, which drives progressive glomerulosclerosis in glomerular diseases, is caused by a reduction in podocyte number, size or function in the context of increasing glomerular volume. METHODS: Kidneys obtained at autopsy from premature and mature infants who died in the first year of life (n = 24) were used to measure podometric parameters for comparison with previously reported data from older kidneys. RESULTS: Glomerular volume increased 4...
December 27, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28027534/asymptomatic-hyperuricemia-is-a-strong-risk-factor-for-resistant-hypertension-in-elderly-subjects-from-general-population
#17
Alberto Mazza, Salvatore Lenti, Laura Schiavon, Alvise Del Monte, Danyelle M Townsend, Emilio Ramazzina, Domenico Rubello, Edoardo Casiglia
OBJECTIVE: In clinical practice, patient characteristics predicting resistant hypertension (RH) include higher blood pressure levels, left ventricular hypertrophy, older age, obesity, chronic kidney disease and diabetes. On the contrary little is known about the role of serum uric acid (SUA) as a risk factor for RH in subjects from general population. MATERIAL AND METHODS: 580 elderly subjects aged ≥65 years were enrolled in the Risk Of Vascular complications Impact of Genetics in Old people (ROVIGO) study...
December 24, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#18
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018288/vitamin-d-on-early-stages-of-diabetic-kidney-disease-a-cross-sectional-study-in-patients-with-type-1-diabetes-mellitus
#19
João Soares Felício, Rafael Mendonça Luz, Franciane Trindade Cunha de Melo, Fabricio de Souza Resende, Alana Ferreira de Oliveira, Amanda Soares Peixoto, João Felício Abrahão Neto, Carolina Tavares Carvalho, Denisson Dias da Silva, Marcia Costa Dos Santos, Natércia Neves Marques de Queiroz, Manuela Nascimento de Lemos, Elizabeth Sumi Yamada, Karem Miléo Felício
CONTEXT: Genetic and environmental factors are involved in the pathogenesis of type 1 diabetes mellitus (T1DM), and vitamin D (VD) deficiency appears as a candidate to risk factor for developing diabetic kidney disease (DKD). OBJECTIVE: The purpose of study was to evaluate the existence of an association between low levels of VD and the presence and degree of DKD in T1DM. PATIENTS AND METHODS: We performed a cross-sectional study, between November 2014 and December 2015...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28017902/a-severe-pulmonary-complication-in-a-patient-with-col4a1-related-disorder-a-case-report
#20
Yoshiichi Abe, Atsuko Matsuduka, Kazuo Okanari, Hiroaki Miyahara, Mitsuhiro Kato, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Maeda Tomoki, Kenji Ihara
Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. We herein report the case of a boy with schizencephaly, renovascular hypertension, and retinal arteriosclerosis of unknown origin, who suffered from severe and repetitive alveolar hemorrhage at 9 years of age...
December 23, 2016: European Journal of Medical Genetics
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