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thin basement membrane disease

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https://www.readbyqxmd.com/read/28334007/a-functional-variant-in-neph3-gene-confers-high-risk-of-renal-failure-in-primary-hematuric-glomerulopathies-evidence-for-predisposition-to-microalbuminuria-in-the-general-population
#1
Konstantinos Voskarides, Charalambos Stefanou, Myrtani Pieri, Panayiota Demosthenous, Kyriakos Felekkis, Maria Arsali, Yiannis Athanasiou, Dimitris Xydakis, Kostas Stylianou, Eugenios Daphnis, Giorgos Goulielmos, Petros Loizou, Judith Savige, Martin Höhne, Linus A Völker, Thomas Benzing, Patrick H Maxwell, Daniel P Gale, Mathias Gorski, Carsten Böger, Barbara Kollerits, Florian Kronenberg, Bernhard Paulweber, Michalis Zavros, Alkis Pierides, Constantinos Deltas
BACKGROUND: Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a possible development for a subset of patients on long-term follow-up, through the onset of focal and segmental glomerulosclerosis (FSGS). We hypothesize that genetic modifiers may explain this variability of symptoms. METHODS: We looked in silico for potentially deleterious functional SNPs, using very strict criteria, in all the genes significantly expressed in the slit diaphragm (SD)...
2017: PloS One
https://www.readbyqxmd.com/read/28324731/basement-membranes
#2
Ranjay Jayadev, David R Sherwood
Basement membranes (BMs) are thin, dense sheets of specialized, self-assembled extracellular matrix that surround most animal tissues (Figure 1, top). The emergence of BMs coincided with the origin of multicellularity in animals, suggesting that they were essential for the formation of tissues. Their sheet-like structure derives from two independent polymeric networks - one of laminin and one of type IV collagen (Figure 1, bottom). These independent collagen and laminin networks are thought to be linked by several additional extracellular matrix proteins, including nidogen and perlecan (Figure 1, bottom)...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28236514/familial-hematuria-a-review
#3
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/28060986/-ultrastructural-alterations-in-renal-biopsy-leading-to-the-diagnosis-of-hiv-infection
#4
Jorge Vega, M Elizabeth Barthel, Gonzalo P Méndez
HIV infection has different clinical presentations. We report a 21-year-old male with longstanding isolated microscopic hematuria attributed to thin glomerular basement membrane disease, who after 15 years of follow-up presented with significant proteinuria. A kidney biopsy was performed, revealing the presence of tubulo-reticular inclusions in the glomerular endothelial cells. This finding led to suspect an HIV infection, which was verified. Antiretroviral therapy, angiotensin-converting enzyme and angiotensin II receptor blockers were prescribed...
September 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28057519/col4a1-mutation-generates-vascular-abnormalities-correlated-with-neuronal-damage-in-a-mouse-model-of-hanac-syndrome
#5
Alix Trouillet, Henri Lorach, Elisabeth Dubus, Brahim El Mathari, Ivana Ivkovic, Julie Dégardin, Manuel Simonutti, Michel Paques, Xavier Guillonneau, Florian Sennlaub, José-Alain Sahel, Pierre Ronco, Emmanuelle Plaisier, Serge Picaud
The HANAC syndrome is caused by mutations in the gene coding for collagen4a1, a major component of blood vessel basement membranes. Ocular symptoms include an increase in blood vessel tortuosity and occasional hemorrhages. To examine how vascular defects can affect neuronal function, we analyzed the retinal phenotype of a HANAC mouse model. Heterozygous mutant mice displayed both a thinning of the basement membrane in retinal blood vessels and in Bruch's membrane resulting in vascular leakage. Homozygous mice had additional vascular changes, including greater vessel coverage and tortuosity...
January 3, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28029267/the-pathological-spectrum-associated-with-the-ultrastructural-finding-of-thin-glomerular-basement-membrane-a-tertiary-medical-city-experience-and-review-of-the-literature
#6
Hala Kfoury, Maria Arafah
BACKGROUND: Thin glomerular basement membrane (GBM) has been noted in several glomerular diseases including IgA nephropathy, focal segmental glomerulosclerosis (FSGS), Fabry's disease, and Alport's syndrome. We conducted this study to investigate the pathological ultrastructural spectrum of thin GBMs, to identify associated diseases, and to measure the GBM thickness in thin GBMs in our adult population. MATERIALS AND METHODS: All renal biopsies with thin GBM, diagnosed between 2010 and 2016, were retrieved and reviewed...
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/27884116/kidney-disease-in-the-elderly-biopsy-based-data-from-14-renal-centers-in-poland
#7
Agnieszka Perkowska-Ptasinska, Dominika Deborska-Materkowska, Artur Bartczak, Tomasz Stompor, Tomasz Liberek, Barbara Bullo-Piontecka, Anna Wasinska, Agnieszka Serwacka, Marian Klinger, Jolanta Chyl, Michal Kuriga, Robert Malecki, Krzysztof Marczewski, Bogdan Hryniewicz, Tadeusz Gregorczyk, Monika Wieliczko, Stanislaw Niemczyk, Olga Rostkowska, Leszek Paczek, Magdalena Durlik
BACKGROUND: Longer life expectancy is associated with an increasing prevalence of kidney disease. Aging itself may cause renal damage, but the spectrum of kidney disorders that affect elderly patients is diverse. Few studies, mostly form US, Asia and West Europe found differences in the prevalence of some types of kidney diseases between elderly and younger patients based on renal biopsy findings, with varied proportion between glomerulopathies and arterionephrosclerosis as a dominant injury found...
November 25, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27818460/different-expression-patterns-of-toll-like-receptor-mrnas-in-blood-mononuclear-cells-of-iga-nephropathy-and-iga-vasculitis-with-nephritis
#8
Ayano Saito, Atsushi Komatsuda, Hajime Kaga, Ryuta Sato, Masaru Togashi, Shin Okuyama, Hideki Wakui, Naoto Takahashi
Mucosal immunity may play a key role in IgA nephropathy (IgAN) and IgA vasculitis with nephritis (IgAVN). IgAVN is characterized by the presence of non-thrombocytopenic palpable purpura, associated with glomerulonephritis with IgA-dominant immune deposits. Recent studies have shown the up-regulation of Toll-like receptors (TLRs) in patients with IgAN or IgAVN. Among TLRs that mediate innate immune reactions, TLR2, TLR4, and TRL5 recognize bacterial components, while TLR3, TLR7, and TLR9 recognize viral components...
2016: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27723276/engineered-basement-membranes-for-regenerating-the-corneal-endothelium
#9
Rachelle N Palchesko, James L Funderburgh, Adam W Feinberg
Basement membranes are protein-rich extracellular matrices (ECM) that are essential for epithelial and endothelial tissue structure and function. Aging and disease cause changes in the physical properties and ECM composition of basement membranes, which has spurred research to develop methods to repair and/or regenerate these tissues. An area of critical clinical need is the cornea, where failure of the endothelium leads to stromal edema and vision loss. Here, an engineered basement membrane (EBM) is developed that consists of a dense layer of collagen IV and/or laminin ≈5-10 nm thick, created using surface-initiated assembly, conformally attached to a collagen I film...
November 2016: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/27707584/epithelial-mesenchymal-transition-in-pediatric-nephropathies
#10
Laura Penna Rocha, Samuel Cavalcante Xavier, Fernanda Rodrigues Helmo, Juliana Reis Machado, Fernando Silva Ramalho, Marlene Antônia Dos Reis, Rosana Rosa Miranda Corrêa
INTRODUCTION: Epithelial-mesenchymal transition (EMT) is a process in which epithelial cells may express mesenchymal cell markers with subsequent change in their functions, and it may be part of the etiopathogenesis of kidney disease. OBJECTIVE: The aim of this study was to evaluate the immunexpression of some EMT inducers and markers in frequent nephropathies in pediatric patients. METHODS: 59 patients aged 2-18 years old were selected and divided into 6 groups of frequent nephropathies in children and adolescents, as well as one control group...
December 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27635185/an-overlapping-case-of-alport-syndrome-and-thin-basement-membrane-disease
#11
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/27543865/morphological-assessment-of-thin-basement-membrane-disease
#12
J Zurawski, P Burchardt, J Moczko, M Seget, K Iwanik, J Sikora, A Woźniak, W Salwa-Zurawska
Thin basement membrane disease is more common than IgA nephropathy or Alport syndrome, which are also associated with the presence of erythrocyturia. Very few reports on the disorder are available in the Polish literature. The objective of this work was to analyze the results from 83 patients with thin basement membrane syndrome as well as to formulate a proposal of strict morphological assessment criteria for the disorder. Attention was drawn to the requirement of thickness of the lamina densa rather than the entire basement membrane thickness and a sufficiently high number of loops featuring thinned lamina densa, namely at least 80% of loops, being taken into account...
June 2016: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/27465582/pathological-implications-of-linear-immunoglobulin-g-staining-on-the-glomerular-capillary-walls-in-a-case-of-infection-related-glomerulonephritis
#13
Yoshihide Fujigaki, Yosuke Kawamorita, Hiromi Yamaguchi, Shigeyuki Arai, Yoshifuru Tamura, Tatsuru Ota, Shigeru Shibata, Fukuo Kondo, Yutaka Yamaguchi, Shunya Uchida
We report a 32-year-old man with nephrotic syndrome and preceding symptom of infection. He had renal insufficiency, hypocomplementemia, and elevated titer of anti-streptolysin O. Renal biopsy showed mesangial hypercellularity and focal segmental endocapillary hypercellularity with double contour of the glomerular basement membrane (GBM). Immunofluorescence study showed granular C3 staining on the mesangial areas and glomerular capillary walls (GCWs) and linear immunoglobulin G (IgG) staining on GCWs. Electron microscopy revealed sporadic subepithelial humps, discontinuous small and thin deposits in the endothelial side of the GBM and mesangial deposits...
September 2016: Pathology International
https://www.readbyqxmd.com/read/27192434/podocyte-depletion-in-thin-gbm-and-alport-syndrome
#14
Larysa Wickman, Jeffrey B Hodgin, Su Q Wang, Farsad Afshinnia, David Kershaw, Roger C Wiggins
The proximate genetic cause of both Thin GBM and Alport Syndrome (AS) is abnormal α3, 4 and 5 collagen IV chains resulting in abnormal glomerular basement membrane (GBM) structure/function. We previously reported that podocyte detachment rate measured in urine is increased in AS, suggesting that podocyte depletion could play a role in causing progressive loss of kidney function. To test this hypothesis podometric parameters were measured in 26 kidney biopsies from 21 patients aged 2-17 years with a clinic-pathologic diagnosis including both classic Alport Syndrome with thin and thick GBM segments and lamellated lamina densa [n = 15] and Thin GBM cases [n = 6]...
2016: PloS One
https://www.readbyqxmd.com/read/26968105/a-novel-fn1-variant-associated-with-familial-hematuria-tbmn
#15
Lamei Yuan, Hongbo Xu, Jinzhong Yuan, Xiong Deng, Wei Xiong, Zhijian Yang, Yuzhou Huang, Hao Deng
OBJECTIVE: Thin basement membrane nephropathy (TBMN), an autosomal dominant inherited condition in general, is characterized clinically by persistent hematuria and pathologically by thinning of glomerular basement membrane. TBMN is occasionally accompanied with proteinuria, hypertension and renal impairment in some cases. The aim of this study is to explore the genetic defect in a Chinese pedigree with familial hematuria. DESIGN AND METHODS: A four-generation Chinese Han pedigree with familial hematuria was recruited...
July 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/26847105/a-case-of-acute-kidney-injury-caused-by-granulomatous-tubulointerstitial-nephritis-associated-with-sarcoidosis-and-concomitant-presence-of-anti-glomerular-basement-membrane-antibody
#16
Kamata Yoshinori, Azuma Arata, Hotta Osamu, Joh Kensuke
We encountered a case of granulomatous tubulointerstitial nephritis in a patient with sarcoidosis, who was also found to show an elevated serum titer of anti-glomerular basement membrane (GBM) antibody. The serum creatinine level had been documented to be within normal range 8 months before the first visit. Gallium scintigraphy revealed bilateral kidney uptake, but no uptake in the pulmonary hilum. No typical findings of sarcoidosis, e.g., bilateral hilar adenopathy, uveitis or elevated serum ACE level were recognized in the early stage...
January 18, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/26833262/a-novel-col4a4-mutation-identified-in-a-chinese-family-with-thin-basement-membrane-nephropathy
#17
Yan Xu, Min Guo, Hui Dong, Wei Jiang, Ruixia Ma, Shiguo Liu, Shenqian Li
Thin basement membrane nephropathy (TBMN) is often attributable to mutations in the COL4A3 or COL4A4 genes that encode the α3 and α4 chains of type IV collagen, respectively, a major structural protein in the glomerular basement membrane. The aim of this study was to explore a new disease-related genetic mutation associated with the clinical phenotype observed in a Chinese Han family with autosomal dominant TBMN. We conducted a clinical and genetic study comprising seven members of this TBMN family. Mutation screening for COL4A3 and COL4A4 was carried out by direct sequencing...
February 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/26809805/identification-of-47-novel-mutations-in-patients-with-alport-syndrome-and-thin-basement-membrane-nephropathy
#18
Stefanie Weber, Katja Strasser, Sabine Rath, Achim Kittke, Sonja Beicht, Martin Alberer, Bärbel Lange-Sperandio, Peter F Hoyer, Marcus R Benz, Sabine Ponsel, Lutz T Weber, Hanns-Georg Klein, Julia Hoefele
BACKGROUND: Alport syndrome (ATS) is a progressive hereditary nephropathy characterized by hematuria and proteinuria. It can be associated with extrarenal manifestations. In contrast, thin basement membrane nephropathy (TBMN) is characterized by microscopic hematuria, is largely asymptomatic, and is rarely associated with proteinuria and end-stage renal disease. Mutations have been identified in the COL4A5 gene in ATS and in the COL4A3 and COL4A4 genes in ATS and TBMN. To date, more than 1000 different mutations in COL4A5, COL4A3, and COL4A4 are known...
June 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26628280/macroscopic-hematuria-with-normal-renal-biopsy-following-the-chain-to-the-diagnosis-answers
#19
Jeanne Truong, Georges Deschênes, Patrice Callard, Corinne Antignac, Olivier Niel
BACKGROUND: Alport syndrome (AS) is an inherited glomerular disease associated with hearing and eye defects; its morbidity is a public health issue in developed countries. AS results from mutations in COL4A3, COL4A4, or COL4A5 genes, respectively encoding the alpha-3, alpha-4, and alpha-5 chains of type IV collagen, a major component of the renal glomerular basement membrane (GBM). The diagnosis is usually confirmed by a renal biopsy showing a thinning/thickening of the GBM, with a longitudinal splitting of the lamina densa...
February 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26628277/macroscopic-hematuria-with-normal-renal-biopsy-following-the-chain-to-the-diagnosis-questions
#20
Jeanne Truong, Georges Deschênes, Patrice Callard, Corinne Antignac, Olivier Niel
BACKGROUND: Alport syndrome (AS) is an inherited glomerular disease associated with hearing and eye defects; its morbidity is a public health issue in developed countries. AS results from mutations in COL4A3, COL4A4, or COL4A5 genes, respectively encoding the alpha-3, alpha-4, and alpha-5 chains of type IV collagen, a major component of the renal glomerular basement membrane (GBM). The diagnosis is usually confirmed by a renal biopsy showing a thinning/thickening of the GBM, with a longitudinal splitting of the lamina densa...
February 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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