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Alport syndrome

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https://www.readbyqxmd.com/read/29203902/amniotic-fluid-stem-cell-derived-vesicles-protect-from-vegf-induced-endothelial-damage
#1
S Sedrakyan, V Villani, S Da Sacco, N Tripuraneni, S Porta, A Achena, M Lavarreda-Pearce, A Petrosyan, H Soloyan, R E De Filippo, B Bussolati, L Perin
Injection of amniotic fluid stem cells (AFSC) delays the course of progression of renal fibrosis in animals with Alport Syndrome, enhancing kidney function and improving survival. The mechanisms responsible for these protective outcomes are still largely unknown. Here, we showed that vascular endothelial growth factor (VEGF) signaling within the glomeruli of Alport mice is strongly elevated early on in the disease, causing glomerular endothelial cell damage. Intraventricular injected AFSC that homed within the glomeruli showed strong modulation of the VEGF activity, particularly in glomerular endothelial cells...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29198685/thin-glomerular-basement-membrane-in-a-kidney-transplant-of-an-alport-s-syndrome-patient-a-case-report
#2
S Santos, S Marques, T Golper, A Langone, A B Fogo
Alport syndrome (AS) and thin basement membrane lesions are caused by various mutations in type IV collagen genes. Although AS is considered a rare disease, thin basement membrane is a frequent pattern, especially in families with a history of persistent hematuria. We report a patient with a diagnosis of AS who developed end-stage kidney disease (ESKD) and received a kidney transplant from a living unrelated donor. The graft biopsy specimen surprisingly showed a pattern of thin basement membranes.
December 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/29198386/x-linked-glomerulopathy-due-to-col4a5-founder%C3%A2-variant
#3
Moumita Barua, Rohan John, Lorenzo Stella, Weili Li, Nicole M Roslin, Bedra Sharif, Saidah Hack, Ginette Lajoie-Starkell, Andrew L Schwaderer, Brian Becknell, Matthias Wuttke, Anna Köttgen, Daniel Cattran, Andrew D Paterson, York Pei
Alport syndrome is a rare hereditary disorder caused by rare variants in 1 of 3 genes encoding for type IV collagen. Rare variants in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome, which accounts for ∼80% of the cases. Alport syndrome has a variable clinical presentation, including progressive kidney failure, hearing loss, and ocular defects. Exome sequencing performed in 2 affected related males with an undefined X-linked glomerulopathy characterized by global and segmental glomerulosclerosis, mesangial hypercellularity, and vague basement membrane immune complex deposition revealed a COL4A5 sequence variant, a substitution of a thymine by a guanine at nucleotide 665 (c...
November 29, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29196624/rna-seq-of-serial-kidney-biopsies-obtained-during-progression-of-chronic-kidney-disease-from-dogs-with-x-linked-hereditary-nephropathy
#4
Candice P Chu, Jessica A Hokamp, Rachel E Cianciolo, Alan R Dabney, Candice Brinkmeyer-Langford, George E Lees, Mary B Nabity
Dogs with X-linked hereditary nephropathy (XLHN) have a glomerular basement membrane defect that leads to progressive juvenile-onset renal failure. Their disease is analogous to Alport syndrome in humans, and they also serve as a good model of progressive chronic kidney disease (CKD). However, the gene expression profile that affects progression in this disease has only been partially characterized. To help fill this gap, we used RNA sequencing to identify differentially expressed genes (DEGs), over-represented pathways, and upstream regulators that contribute to kidney disease progression...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29172845/temporal-retinal-thinning-and-the-diagnosis-of-alport-syndrome-and-thin-basement-membrane-nephropathy
#5
Yan Chen, Deb Colville, Francesco Ierino, Andrew Symons, Judy Savige
BACKGROUND AND OBJECTIVES: Alport syndrome is an inherited disease characterized by renal failure, hearing loss, and ocular abnormalities, including temporal retinal thinning. This study compared retinal thinning in Alport syndrome and other renal diseases. METHODS: Alport syndrome was diagnosed on renal biopsy and genetic testing. Subjects underwent optical coherence tomography (OCT) (Spectralis OCT, Heidelberg Instruments). Retinal thinning was determined from horizontal macular OCT scans through the foveal center using the formula: Temporal thickness index (TTI) = (nasal - temporal thickness) ÷ nasal thickness × 100%, and compared with the normal range for each age group...
November 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29150092/generation-of-integration-free-induced-pluripotent-stem-cell-lines-derived-from-two-patients-with-x-linked-alport-syndrome-xlas
#6
Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya
Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblasts were extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53 shRNA. The generated induced Pluripotent Stem Cell (iPSC) lines AS-FiPS2-Ep6F-28 and AS-FiPS3-Ep6F-9 were free of genomically integrated reprogramming genes, had the specific mutations, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro...
September 9, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29142990/the-chemical-chaperone-pba-reduces-er-stress-and-autophagy-and-increases-collagen-iv-%C3%AE-5-expression-in-cultured-fibroblasts-from-men-with-x-linked-alport-syndrome-and-missense-mutations
#7
Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige
Introduction: X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations. Methods: Dermal fibroblast cultures were established from 2 affected men and 3 normals. Proliferation rates were examined, the collagen IV α5 chain localized with immunostaining, and levels of the intra- and extracellular chains quantitated with an in-house enzyme-linked immunosorbent assay...
July 2017: KI Reports
https://www.readbyqxmd.com/read/29142939/negative-staining-for-col4a5-correlates-with-worse-prognosis-and-more-severe-ultrastructural-alterations-in-males-with-alport-syndrome
#8
Samar M Said, Mary E Fidler, Anthony M Valeri, Brooke McCann, Wade Fiedler, Lynn D Cornell, Mariam Priya Alexander, Ahmed M Alkhunaizi, Anne Sullivan, Carl H Cramer, Marie C Hogan, Samih H Nasr
Introduction: Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children. Methods: To determine the prognostic value of loss of staining for collagen type IV alpha 5 (COL4A5) and its relationship with the ultrastructural glomerular basement membrane alterations, we performed direct immunofluorescence using a mixture of fluorescein isothiocyanate-conjugated and Texas-red conjugated antibodies against COL4A5 and COL4A2, respectively, on renal biopsies of 25 males with AS (including 16 who were diagnosed in adulthood)...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29138824/genetic-mutational-testing-of-chinese-children-with-familial-hematuria-with-biopsy%C3%A2-proven-fsgs
#9
Yongzhen Li, Ying Wang, Qingnan He, Xiqiang Dang, Yan Cao, Xiaochuan Wu, Shuanghong Mo, Xiaoxie He, Zhuwen Yi
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is considered a podocyte disease due to the fact that in the majority of patients with proven‑FSGS, the lesion results from defects in the podocyte structure or function. However, FSGS does not result exclusively from podocyte‑associated genes, however also from other genes including collagen IV‑associated genes. Patients who carry the collagen type IVA3 chain (COL4A3) or COL4A4 mutations usually exhibit Alport Syndrome (AS), thin basement membrane neuropathy or familial hematuria (FH)...
November 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29130116/hearing-loss-and-renal-syndromes
#10
Paul J Phelan, Michelle N Rheault
The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems...
November 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29098738/urine-derived-podocytes-lineage-cells-a-promising-tool-for-precision-medicine-in-alport-syndrome
#11
S Daga, M Baldassarri, C Lo Rizzo, C Fallerini, V Imperatore, I Longo, E Frullanti, E Landucci, L Massella, C Pecoraro, G Garosi, F Ariani, M A Mencarelli, F Mari, A Renieri, A M Pinto
Alport Syndrome (ATS) is a rare genetic disorder caused by collagen IV genes mutations, leading to Glomerular Basement Membrane (GBM) damage up to end-stage renal disease. Podocytes, the main component of the glomerular structure, are the only cells able to produce all the three collagens IV alpha chains associated to ATS and thus, they are key-players in ATS pathogenesis. However, podocytes-targeted therapeutic strategies, have been hampered by the difficulty of non-invasively isolating them and transcripts-based diagnostic approaches are complicated by the inaccessibility of other COL4 chains-expressing cells...
November 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/29089023/phenotype-variability-in-a-large-spanish-family-with-alport-syndrome-associated-with-novel-mutations-in-col4a3-gene
#12
C Cervera-Acedo, A Coloma, E Huarte-Loza, M Sierra-Carpio, E Domínguez-Garrido
BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or α5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and autosomal recessive phenotypes, there is very little information about the autosomal dominant...
October 31, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29066492/granulomatous-thyroiditis-a-case-report-and-literature-review
#13
Darshan P Trivedi, Ramesh Bhagat, Yukihiro Nakanishi, Alun Wang, Krzysztof Moroz, Nadja K Falk
BACKGROUND: Granulomatous disease in the thyroid gland has been linked to viral, bacterial and autoimmune etiologies. The most common granulomatous disease of the thyroid is subacute granulomatous thyroiditis, which is presumed to have a viral or post-viral inflammatory cause. Bacterial etiologies include tuberculosis, actinomycosis, and nocardiosis, but are extremely rare. Disseminated actinomycosis and nocardiosis more commonly affect organ-transplant patients with the highest susceptibility within the first year after transplant surgery...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29045953/-detection-of-large-deletions-in-x-linked-alport-syndrome-using-competitive-multiplex-fluorescence-polymerase-chain-reaction
#14
F Wang, Y Q Zhang, J Ding, L X Yu
OBJECTIVE: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. METHODS: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type IV collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type IV collagen α5 chain in the glomerular basement membrane and Bowman's capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28992339/stat3-inhibition-attenuates-the-progressive-phenotypes-of-alport-syndrome-mouse-model
#15
Tsubasa Yokota, Kohei Omachi, Mary Ann Suico, Misato Kamura, Haruka Kojima, Ryosuke Fukuda, Keishi Motomura, Keisuke Teramoto, Shota Kaseda, Jun Kuwazuru, Toru Takeo, Naomi Nakagata, Tsuyoshi Shuto, Hirofumi Kai
Background: Alport syndrome (AS) is a hereditary, progressive nephritis caused by mutation of type IV collagen. Previous studies have shown that activation of signal transducer and activator of transcription 3 (STAT3) exacerbates other renal diseases, but whether STAT3 activation exacerbates AS pathology is still unknown. Here we aim to investigate the involvement of STAT3 in the progression of AS. Method: Phosphorylated STAT3 expression was assessed by immunoblotting analysis of kidneys and glomeruli of an AS mouse model ( Col4a5 G5X mutant)...
August 17, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28969174/simultaneous-bilateral-anterior-and-posterior-lenticonus-in-alport-syndrome
#16
Ravi Kant Bamotra, Meenakshi, Prem Chandra Kesarwani, Shazia Qayum
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, central perimacular and peripheral coalescing fleck retinopathies, and temporal retinal thinning. Although anterior lenticonus is common in Alport syndrome, simultaneous anterior and posterior lenticonus is a rare presentation. We report a case of a 22-year-old female with simultaneous anterior and posterior lenticonus presentation in which ocular examination lead to the detection of Alport syndrome...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28916834/ultrastructural-characterization-of-the-glomerulopathy-in-alport-mice-by-helium-ion-scanning-microscopy-him
#17
Kenji Tsuji, Hani Suleiman, Jeffrey H Miner, James M Daley, Diane E Capen, Teodor G Păunescu, Hua A Jenny Lu
The glomerulus exercises its filtration barrier function by establishing a complex filtration apparatus consisting of podocyte foot processes, glomerular basement membrane and endothelial cells. Disruption of any component of the glomerular filtration barrier leads to glomerular dysfunction, frequently manifested as proteinuria. Ultrastructural studies of the glomerulus by transmission electron microscopy (TEM) and conventional scanning electron microscopy (SEM) have been routinely used to identify and classify various glomerular diseases...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28905837/en-face-optical-coherence-tomography-findings-in-a-case-of-alport-syndrome
#18
In Hwan Cho, Hoon Dong Kim, Sang Joon Jung, Tae Kwann Park
Alport syndrome is a rare hereditary disease that is associated with retinal abnormalities such as dot-and-fleck retinopathy and temporal macular thinning. The main pathophysiological process of Alport syndrome is loss of the collagen network in the basement membrane. However, the alterations in each retinal layer have not been fully evaluated. In the case presented here, we evaluated the retina of a patient with Alport syndrome using en face optical coherence tomography (OCT). The findings suggested that the primary alterations occur in the internal limiting membrane and the retinal pigment epithelium basement membrane which is a part of the Bruch's membrane...
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28898339/-young-woman-daughter-of-a-father-with-alport%C3%A2-s-syndrome-debuts-with-a-impure-nephrotic-syndrome
#19
Fernando González, Gonzalo Méndez, Daniela Navarrete, Emilio Roessler B
No abstract text is available yet for this article.
May 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28884028/spontaneous-coronary-artery-dissection-a-rare-manifestation-of-alport-syndrome
#20
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports...
2017: Case Reports in Cardiology
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