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alports syndrome

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https://www.readbyqxmd.com/read/28604958/-study-of-a-family-affected-with-focal-segmental-glomerulosclerosis-due-to-mutation-of-col4a5-gene
#1
Jing Zhang, Jing Yang, Zhangxue Hu
OBJECTIVE: To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS). METHODS: Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing. RESULTS: Next-generation sequencing detected a missense mutation (c...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28594982/bilateral-retinal-problem-in-a-patient-with-alport-syndrome
#2
Sundeep K Kasi, Murtaza K Adam, David S Ehmann
No abstract text is available yet for this article.
June 8, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28570636/alport-syndrome-cold-cases-missing-mutations-identified-by-exome-sequencing-and-functional-analysis
#3
Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà
Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal portion of patients. Here, we applied whole-exome sequencing (WES) in 3 Italian families negative after candidate-gene analyses. In Family 1, we identified a novel heterozygous intronic variant (c.2245-40A>G) -outside the conventionally screened candidate region for diagnosis- potentially disrupting COL4A5 exon29 splicing...
2017: PloS One
https://www.readbyqxmd.com/read/28566416/alport-s-syndrome-with-type-4-renal-tubular-acidosis
#4
Thomas McDonnell, Chukwuma Chukwu, Christopher Wong
This case report details a 51-year-old man with Alport's syndrome resulting in chronic nephritis with stable renal function and sensorineural deafness. The patient was being investigated for persistently raised potassium refractory to dietary and pharmacological modification. Subsequently, the patient was found to have type 4 renal tubular acidosis, and potassium normalised with the addition of fludrocortisone.
May 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28546999/a-birth-of-bipartite-exon-by-intragenic-deletion
#5
Kandai Nozu, Kazumoto Iijima, Toru Igarashi, Shiro Yamada, Jana Kralovicova, Yoshimi Nozu, Tomohiko Yamamura, Shogo Minamikawa, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Igor Vorechovsky
BACKGROUND: Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. METHODS: We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. RESULTS: The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28542346/novel-mutations-in-col4a3-col4a4-and-col4a5-in-chinese-patients-with-alport-syndrome
#6
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymerase chain reaction (PCR)-based approaches. Here, in order to design a rapid and effective method for the genetic diagnosis of AS, we developed a strategy by utilizing targeted capture associated with next-generation sequencing (NGS) to analyze COL4A3, COL4A4, and COL4A5 simultaneously in 20 AS patients...
2017: PloS One
https://www.readbyqxmd.com/read/28515156/anti-glomerular-basement-membrane-disease
#7
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/28502323/a-case-report-on-the-exceptional-coincidence-of-two-inherited-renal-disorders-adpkd-and-alport-syndrome%C3%A2
#8
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/28501298/ace2-as-therapy-for-glomerular-disease-the-devil-is-in-the-detail
#9
Michael J Ross, Masaomi Nangaku
Angiotensin-converting enzyme 2 cleaves angiotensin (Ang) II to Ang(1-7), which antagonizes the deleterious effects of Ang II. In this issue, 2 groups administered angiotensin-converting enzyme 2 in murine models of kidney disease. Angiotensin-converting enzyme 2 did not improve glomerular injury in 2 models of mild diabetic nephropathy but was partially protective in an Alport syndrome model. These discrepant findings may be explained by the inability of angiotensin-converting enzyme 2 to reach the urinary space in the absence of severe proteinuria...
June 2017: Kidney International
https://www.readbyqxmd.com/read/28424209/the-sulfilimine-cross-link-of-collagen-iv-contributes-to-kidney-tubular-basement-membrane-stiffness
#10
Gautam Bhave, Selene Colon, Nicholas Ferrell
Basement membranes (BMs) are a specialized form of extracellular matrix (ECM) which underlie nearly all cell layers and provide structural support for tissues and interact with cell surface receptors to determine cell behavior. Both macromolecular composition and stiffness of BM influence cell-BM interactions. Collagen IV is major constituent of BM that forms an extensively cross-linked oligomeric network. Its deficiency leads to BM mechanical instability as observed with glomerular basement membrane (GBM) in Alport Syndrome...
April 19, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28407818/-clinical-and-pathological-features-and-the-misdiagnosis-of-childhood-alport-syndrome-a-retrospective-analysis-of-91-cases
#11
Yan-Zhen Chen, Liang-Zhong Sun, Hai-Yan Wang, Xiao-Yun Jiang, Ying Mo, Zhi-Hui Yue, Hua-Mu Chen, Ting Liu, Hong-Rong Lin
OBJECTIVE: To explore the clinical and pathological features and the diagnosis of childhood Alport syndrome (AS). METHODS: A retrospective analysis was performed on clinical data of 91 children with AS. RESULTS: Hematuria was observed in all 91 patients, of whom 86 were accompanied with proteinuria. Sixty-one children with X-Linked AS (XL-AS) had positive family history. Renal biopsy was performed on 82 children. Mild to moderate mesangial proliferation was observed in 74 cases...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28356090/anca-vasculitis-in-a-patient-with-alport-syndrome-a-difficult-diagnosis-but-a-treatable-disease
#12
Valentine Gillion, Michel Jadoul, Selda Aydin, Nathalie Godefroid
BACKGROUND: Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases. The management of this case highlights the importance of a systematic approach when investigating the unexpected unfavourable evolution of a known glomerulopathy. CASE PRESENTATION: A-17 year old caucasian boy with a genetically proven X-linked Alport syndrome presented with progressive dyspnea, fatigue and pallor...
March 29, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28287108/alport-syndrome-ace2-administration-slows-kidney-damage
#13
Liesbet Lieben
No abstract text is available yet for this article.
May 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28275241/characterization-of-contiguous-gene-deletions-in-col4a6-and-col4a5-in-alport-syndrome-diffuse-leiomyomatosis
#14
Kandai Nozu, Shogo Minamikawa, Shiro Yamada, Masafumi Oka, Motoko Yanagita, Naoya Morisada, Shuichiro Fujinaga, China Nagano, Yoshimitsu Gotoh, Eihiko Takahashi, Takahiro Morishita, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Koichi Nakanishi, Igor Vorechovsky, Kazumoto Iijima
Alport syndrome-diffuse leiomyomatosis (AS-DL, OMIM: 308940) is a rare variant of the X-linked Alport syndrome that shows overgrowth of visceral smooth muscles in the gastrointestinal, respiratory and female reproductive tracts in addition to renal symptoms. AS-DL results from deletions that encompass the 5' ends of the COL4A5 and COL4A6 genes, but deletion breakpoints between COL4A5 and COL4A6 have been determined in only four cases. Here, we characterize deletion breakpoints in five AS-DL patients and show a contiguous COL4A6/COL4A5 deletion in each case...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#15
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
May 2017: Hearing Research
https://www.readbyqxmd.com/read/28249676/murine-recombinant-angiotensin-converting-enzyme-2-attenuates-kidney-injury-in-experimental%C3%A2-alport-syndrome
#16
Eun Hui Bae, Fei Fang, Vanessa R Williams, Ana Konvalinka, Xiaohua Zhou, Vaibhav B Patel, Xuewen Song, Rohan John, Gavin Y Oudit, York Pei, James W Scholey
Angiotensin-converting enzyme 2 (ACE2) is a monocarboxypeptidase in the renin-angiotensin system that catalyzes the breakdown of angiotensin II to angiotensin 1-7. We have reported that ACE2 expression in the kidney is reduced in experimental Alport syndrome but the impact of this finding on disease progression has not been studied. Accordingly, we evaluated effects of murine recombinant ACE2 treatment in Col4a3 knockout mice, a model of Alport syndrome characterized by proteinuria and progressive renal injury...
June 2017: Kidney International
https://www.readbyqxmd.com/read/28246329/permeation-of-macromolecules-into-the-renal-glomerular-basement-membrane-and-capture-by-the-tubules
#17
Marlon G Lawrence, Michael K Altenburg, Ryan Sanford, Julian D Willett, Benjamin Bleasdale, Byron Ballou, Jennifer Wilder, Feng Li, Jeffrey H Miner, Ulla B Berg, Oliver Smithies
How the kidney prevents urinary excretion of plasma proteins continues to be debated. Here, using unfixed whole-mount mouse kidneys, we show that fluorescent-tagged proteins and neutral dextrans permeate into the glomerular basement membrane (GBM), in general agreement with Ogston's 1958 equation describing how permeation into gels is related to molecular size. Electron-microscopic analyses of kidneys fixed seconds to hours after injecting gold-tagged albumin, negatively charged gold nanoparticles, and stable oligoclusters of gold nanoparticles show that permeation into the lamina densa of the GBM is size-sensitive...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28245485/female-patient-with-alport-syndrome-and-concomitant-membranous-nephropathy-susceptibility-or-association-of-two-diseases
#18
Mariana P Veloso, Precil D M M Neves, Lectícia B Jorge, Cristiane B Dias, Luis Yu, Rafaela B B Pinheiro, Leonardo A Testagrossa, Denise M Malheiros, Bruno E P Balbo, Antônio M Lerário, Luiz F Onuchic, Viktoria Woronik
Alport syndrome (AS) is a disorder of collagen IV, a component of glomerular basement membrane (GBM). The association of AS and immunocomplex nephropathies is uncommon. This is a case of a 37-year-old woman with family history of X-linked AS, including 4 affected sons. This patient developed full-blown nephrotic syndrome along a 3-month period, a presentation not consistent with AS progression. This scenario suggested an alternative diagnosis. A kidney biopsy was therefore performed, showing membranous nephropathy (MN) in addition to GBM structural alterations compatible with AS...
2017: Nephron
https://www.readbyqxmd.com/read/28236514/familial-hematuria-a-review
#19
REVIEW
Pavlína Plevová, Josef Gut, Jan Janda
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men...
2017: Medicina
https://www.readbyqxmd.com/read/28204945/spectrum-of-mutations-in-chinese-children-with-steroid-resistant-nephrotic-syndrome
#20
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt
BACKGROUND: The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity. METHODS: Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48...
February 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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