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alport syndrome hearing loss

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https://www.readbyqxmd.com/read/27917694/outcomes-of-kidney-transplantation-in-alport-syndrome-compared-with-other-forms-of-renal-disease
#1
Yvelynne P Kelly, Anish Patil, Luke Wallis, Susan Murray, Saumitra Kant, Mohammed A Kaballo, Liam Casserly, Brendan Doyle, Anthony Dorman, Patrick O'Kelly, Peter J Conlon
INTRODUCTION: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane. Patients with Alport syndrome who undergo renal transplantation have been shown to have patient and graft survival rates similar to or better than those of patients with other renal diseases. METHODS: In this national case series, based in Beaumont Hospital Dublin, we studied the cohort of patients who underwent renal transplantation over the past 33 years, recorded prospectively in the Irish Renal Transplant Registry, and categorized them according to the presence or absence of Alport syndrome...
December 5, 2016: Renal Failure
https://www.readbyqxmd.com/read/27816395/-alport-syndrome-hereditary-nephropathy-associated-with-mutations-in-genes-coding-for-type-iv-collagen-chains
#2
Laurence Heidet, Marie-Claire Gubler
Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the glomerular basement membranes, a progressive sensorineural hearing loss and sometimes ocular involvement. Its incidence is less than 1 per 5000 individuals and the disease is the cause of about 2% of end stage renal disease in Europe and the United States. Alport syndrome is clinically and genetically heterogeneous. It is related to mutations in the genes encoding one of three chains, α3, α4 α5 of type IV collagen, the main component of basement membranes, expressed in the glomerular basement membrane...
November 2, 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27811305/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis
#3
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
BACKGROUND: Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula...
November 3, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27635185/an-overlapping-case-of-alport-syndrome-and-thin-basement-membrane-disease
#4
Mashriq Alganabi, Ahmad Eter
We report a case of a 48-year-old male who presented with hematuria of at least 10 years, and has a daughter with hematuria as well. The patient has a history of degenerative hearing loss, decreased vision and cataract formation, but no diabetes, hypertension or proteinuria. A full serology and urology workup was negative for any abnormality. A kidney biopsy for the patient revealed a diagnosis of Alport syndrome but was unable to rule out thin basement membrane disease. The biopsy was inconclusive in making the diagnosis but the patient's clinical presentation led to the diagnosis of Alport syndrome...
October 2016: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/27627812/x-linked-and-autosomal-recessive-alport-syndrome-pathogenic-variant-features-and-further-genotype-phenotype-correlations
#5
Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset...
2016: PloS One
https://www.readbyqxmd.com/read/27553900/endothelin-1-mediated-induction-of-extracellular-matrix-genes-in-strial-marginal-cells-underlies-strial-pathology-in-alport-mice
#6
Daniel T Meehan, Duane Delimont, Brianna Dufek, Marisa Zallocchi, Grady Phillips, Michael Anne Gratton, Dominic Cosgrove
Alport syndrome, a type IV collagen disorder, manifests as glomerular disease associated with hearing loss with thickening of the glomerular and strial capillary basement membranes (SCBMs). We have identified a role for endothelin-1 (ET-1) activation of endothelin A receptors (ETARs) in glomerular pathogenesis. Here we explore whether ET-1 plays a role in strial pathology. Wild type (WT) and Alport mice were treated with the ETAR antagonist, sitaxentan. The stria vascularis was analyzed for SCBM thickness and for extracellular matrix (ECM) proteins...
November 2016: Hearing Research
https://www.readbyqxmd.com/read/27485810/bull-s-eye-and-pigment-maculopathy-are-further-retinal-manifestations-of-an-abnormal-bruch-s-membrane-in-alport-syndrome
#7
Judy Savige, Yanyan Wang, Andrew Crawford, James Smith, Andrew Symons, Heather Mack, Kathy Nicholls, Diane Wilson, Deb Colville
BACKGROUND AND OBJECTIVES: The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. METHODS: We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All individuals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan)...
August 2, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27287265/alport-syndrome-in-women-and-girls
#8
Judy Savige, Deb Colville, Michelle Rheault, Susie Gear, Rachel Lennon, Sharon Lagas, Moira Finlay, Frances Flinter
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%-30% develop renal failure by 60 years and often hearing loss by middle age. Half of their sons and daughters are also affected. Autosomal recessive Alport syndrome is less common, but is often mistaken for X-linked disease...
September 7, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27281700/genetic-clinical-and-pathologic-backgrounds-of-patients-with-autosomal-dominant-alport-syndrome
#9
Naohiro Kamiyoshi, Kandai Nozu, Xue Jun Fu, Naoya Morisada, Yoshimi Nozu, Ming Juan Ye, Aya Imafuku, Kenichiro Miura, Tomohiko Yamamura, Shogo Minamikawa, Akemi Shono, Takeshi Ninchoji, Ichiro Morioka, Koichi Nakanishi, Norishige Yoshikawa, Hiroshi Kaito, Kazumoto Iijima
BACKGROUND AND OBJECTIVES: Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted a retrospective analysis of 25 patients with genetically proven autosomal dominant Alport syndrome and their family members (a total of 72 patients) from 16 unrelated families...
August 8, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27190345/advances-and-unmet-needs-in-genetic-basic-and-clinical-science-in-alport-syndrome-report-from-the-2015-international-workshop-on-alport-syndrome
#10
Oliver Gross, Clifford E Kashtan, Michelle N Rheault, Frances Flinter, Judith Savige, Jeffrey H Miner, Roser Torra, Elisabet Ars, Constantinos Deltas, Isavella Savva, Laura Perin, Alessandra Renieri, Francesca Ariani, Francesca Mari, Colin Baigent, Parminder Judge, Bertrand Knebelman, Laurence Heidet, Sharon Lagas, Dave Blatt, Jie Ding, Yanqin Zhang, Daniel P Gale, Marco Prunotto, Yong Xue, Asher D Schachter, Lori C G Morton, Jacqui Blem, Michael Huang, Shiguang Liu, Sebastien Vallee, Daniel Renault, Julia Schifter, Jules Skelding, Susie Gear, Tim Friede, A Neil Turner, Rachel Lennon
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies...
May 10, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/26995302/raas-inhibition-and-the-course-of-alport-syndrome
#11
REVIEW
Isavella Savva, Alkis Pierides, Constantinos Deltas
Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder mutations will do so at older ages, even after 50 years. Frequent extrarenal manifestations are hearing loss and ocular abnormalities. AS is a genetically heterogeneous collagen IV nephropathy, with 85% of the cases caused by mutations in the X-linked COL4A5 gene and the rest by homozygous or compound heterozygous mutations in either the COL4A3 or the COL4A4 gene on chromosome 2q36-37...
May 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/26866448/a-novel-splicing-mutation-identified-in-a-chinese-family-with-x-linked-alport-syndrome-using-targeted-next-generation-sequencing
#12
Chen Chen, Chao-Xia Lu, Qiong Wang, Li-Hua Cao, Yang Luo, Xue Zhang
AIMS: Alport syndrome (AS) is a genetically heterogeneous disorder, characterized by hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. The aim of this study was to identify underlying mutations in individuals from a Chinese family with X-linked AS. METHODS: We performed targeted next-generation sequencing (NGS) to identify mutations associated with AS. The results were processed and visualized using an Integrated Genomics Viewer software...
April 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/26791927/-clinical-and-genetic-features-of-x-linked-alport-syndrome-in-men-positive-for-the-collagen-%C3%A2-%C3%AE-5-chain-in-epidermal-basement-membrane
#13
Yanqin Zhang, Jie Ding, Fang Wang, Hongwen Zhang, Huijie Xiao, Yong Yao, Xuhui Zhong, Na Guan, Xiaoyu Liu, Lixia Yu, Jingcheng Liu, Jiyun Yang
OBJECTIVE: To analyze the clinical and genetic features of X-linked Alport syndrome (XLAS) in men positive for the collagen α5(Ⅳ) chain in epidermal basement membrane. METHOD: This was a retrospective study. Totally 725 families were diagnosed as Alport syndrome in Department of Pediatrics of Peking University First Hospital during January 1998 to December 2014, among them 450 patients were males with XLAS. Patients who met both of the following two criteria were included in this study...
January 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/26613025/a-col4a5-mutation-with-glomerular-disease-and-signs-of-chronic-thrombotic-microangiopathy
#14
Matthias Wuttke, Maximilian Seidl, Angelica Malinoc, Friedrich C Prischl, E Wolfgang Kuehn, Gerd Walz, Anna Köttgen
COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt haematuria or hearing loss. A renal biopsy revealed features of atypical IgA nephropathy, while a second biopsy a year later showed features of focal segmental glomerulosclerosis, but was finally diagnosed as chronic thrombotic microangiopathy...
December 2015: Clinical Kidney Journal
https://www.readbyqxmd.com/read/26168235/a-novel-mutation-in-a-kazakh-family-with-x-linked-alport-syndrome
#15
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations...
2015: PloS One
https://www.readbyqxmd.com/read/26056797/genotype-phenotype-correlation-of-the-p-r1165c-mutation-in-the-myh9-disorder-report-of-a-japanese-pedigree
#16
Satomi Okano, Masashi Takase, Kenichi Iseki, Naohisa Toriumi, Makoto Kaneda, Shinji Kunishima
MYH9 disorder is a rare autosomal dominant disease characterized by congenital thrombocytopenia with giant platelets and leukocyte inclusion bodies and is often associated with Alport-like symptoms, such as glomerulonephritis, sensorineural hearing loss, and cataracts. We report a Japanese pedigree wherein the MYH9 p.R1165C mutation was present in over 4 generations. Three individuals were misdiagnosed as Bernard-Soulier syndrome carriers. Among the 12 patients with abnormal hematological features, the proband's mother, aunt, and grandaunt presented with sensorineural hearing impairment, and the mother presented with presenile cataract, and nephritis...
August 2015: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/25876686/-features-of-clinical-phenotype-and-genotype-in-alport-syndrome-a-monocentric-study
#17
Lei Sun, Xinyu Kuang, Sheng Hao, Ping Wang, Xiaoling Niu, Guanghua Zhu, Junmei Zhou, Wenyan Huang
OBJECTIVE: To analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS). METHOD: From May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method. RESULT: Of these 25 cases, 19(76%) had X-linked Alport syndromes (XL-AS), 6 had autosomal recessive Alport syndromes (AR-AS)...
February 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/25649157/ocular-features-in-alport-syndrome-pathogenesis-and-clinical-significance
#18
REVIEW
Judy Savige, Shivanand Sheth, Anita Leys, Anjali Nicholson, Heather G Mack, Deb Colville
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable...
April 7, 2015: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/25598368/-analysis-of-the-clinical-audiological-characteristics-in-92-chinese-alport-syndrome-cases
#19
Li Chen, Junfang Xue, Yanqin Zhang, Fang Wang, Siqi Chen, Jibo Duan, Yuhe Liu, Jie Ding
OBJECTIVE: To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype. METHODS: The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed. All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA, or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases...
November 2014: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/25596306/col4a3-mutations-cause-focal-segmental-glomerulosclerosis
#20
Jingyuan Xie, Xiaoxi Wu, Hong Ren, Weiming Wang, Zhaohui Wang, Xiaoxia Pan, Xu Hao, Jun Tong, Jun Ma, Zhibin Ye, Guoyu Meng, Yufei Zhu, Krzysztof Kiryluk, Xiangyin Kong, Landian Hu, Nan Chen
Focal segmental glomerulosclerosis (FSGS) is a histologically identifiable glomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Alport's syndrome (ARAS) patients, and 190 ethnically matched healthy controls. Patients with extrarenal manifestations, indicating systemic diseases or other known hereditary renal diseases, were excluded...
December 2014: Journal of Molecular Cell Biology
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