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thin basement membrane disease

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...
October 10, 2016: Advanced Healthcare Materials
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...
September 22, 2016: Pathology, Research and Practice
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
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
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
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
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
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...
2015: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
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...
2016: Scientific Reports
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
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...
December 1, 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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...
December 1, 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Andy K H Lim, Susan Brown, Ian Simpson, John P Dowling
BACKGROUND: Acute kidney injury due to glomerular bleeding has been described with IgA nephropathy and supratherapeutic warfarin anticoagulation. There is usually demonstrable tubular obstruction by erythrocyte casts associated with acute tubular injury. Although severe thrombocytopaenia increases the risk of bleeding, most cases of haematuria have been ascribed to non-glomerular or urological bleeding without a direct link to acute kidney injury. We describe a patient with acute kidney injury due to glomerular bleeding and tubular injury related to severe thrombocytopaenia, who was subsequently found to have thin basement membrane disease...
2015: BMC Nephrology
Giovanni Maria Frascà, Domenica Taruscia, Valentina Nastasi, Emilio Balestra, Stefania Pugliese, Roberta Mazzucchelli
Diagnosis of Alport syndrome or Thin basement membrane disease is suggested first of all by the clinical picture, the presence of neurisensorial hypoacusia and/or ocular abnormalities, and the family history which should be as accurate as possible involving the largest number possible of family members to recognize the transmission modalities, i.e. X-linked or autosomal. Renal biopsy remains the main tool to confirm the diagnosis and requires electron microscopy observation and collagen IV alpha chains investigation on renal tissue by means of specific antibodies...
2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Ingunn Risnes Hellings, Stina Ekman, Kjell Hultenby, Nils Ivar Dolvik, Kristin Olstad
Cartilage canals have been shown to contain discontinuous blood vessels that enable circulating bacteria to bind to cartilage matrix, leading to vascular occlusion and associated pathological changes in pigs and chickens. It is also inconsistently reported that cartilage canals are surrounded by a cellular or acellular wall that may influence whether bacterial binding can occur. It is not known whether equine cartilage canals contain discontinuous endothelium or are surrounded by a wall. This study aimed to examine whether there were discontinuities in the endothelium of cartilage canal vessels, and whether canals had a cellular or acellular wall, in the epiphyseal growth cartilage of foals...
January 2016: Journal of Anatomy
Christine Gast, Reuben J Pengelly, Matthew Lyon, David J Bunyan, Eleanor G Seaby, Nikki Graham, Gopalakrishnan Venkat-Raman, Sarah Ennis
BACKGROUND: Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion of collagen IV mutations responsible for Alport disease (AD) or thin basement membrane nephropathy (TBMN). We aimed to investigate the distribution of gene mutations in adult patients with primary FSGS/SRNS by targeted next generation sequencing (NGS). METHODS: Eighty-one adults from 76 families were recruited; 24 families had a history of renal disease...
June 2016: Nephrology, Dialysis, Transplantation
Samuel C Allred, Karen E Weck, Adil Gasim, Amy K Mottl
AIMS: X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood. Because of the presence of two X chromosomes, females often have a less severe phenotype and hence the diagnosis of AS is often not considered. Herein, we present a case of an adolescent girl with proteinuria and hematuria in the setting of a strong family history of AL...
November 2015: Clinical Nephrology
Kim M O'Sullivan, Camden Y Lo, Shaun A Summers, Kirstin D Elgass, Paul J McMillan, Anthony Longano, Sharon L Ford, Poh-Yi Gan, Peter G Kerr, A Richard Kitching, Stephen R Holdsworth
Myeloperoxidase (MPO) is an important neutrophil lysosomal enzyme, a major autoantigen, and a potential mediator of tissue injury in MPO-ANCA-associated vasculitis (MPO-AAV) and glomerulonephritis. Here we examined MPO deposition in kidney biopsies from 47 patients with MPO-AAV. Leukocyte accumulation and fibrin deposition consistent with cell-mediated immunity was a major feature. Tubulointerstitial macrophage, CD4+ and CD8+ T-cell, and neutrophil numbers correlated with low presenting eGFR. MPO was not detected in kidneys from patients with minimal change or thin basement membrane disease, but was prominent in glomerular, periglomerular, and tubulointerstitial regions in MPO-AAV...
November 2015: Kidney International
Charalambos Stefanou, Myrtani Pieri, Isavella Savva, Georgia Georgiou, Alkis Pierides, Konstantinos Voskarides, Constantinos Deltas
BACKGROUND/AIMS: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement membrane nephropathy (TBMN-OMIM: 141200). Two studies showed that co-inheritance of NPHS2-p.Arg229Gln, a podocin variant, may increase the risk for proteinuria and renal function decline. METHODS: We hypothesized that additional podocin variants may exert a similar effect...
2015: Nephron
Kazushi Tsuruga, Tomomi Aizawa, Shojiro Watanabe, Koji Tsugawa, Hidemi Yoshida, Tadaatsu Imaizumi, Etsuro Ito, Hiroshi Tanaka
AIM: It has been reported that the innate immune system plays a pivotal role in the pathogenesis of immunoglobulin A nephropathy (IgAN). To explore non-invasive monitoring of disease activity in children with IgAN, we examined whether expressions of mRNA for innate immunity-associated functional molecules: CC ligand chemokine 5 (CCL5), fractalkine/CX3CL1, interferon-γ-induced protein 10 (IP-10), monocyte chemoattractant protein 1 (MCP-1), retinoic acid-inducible gene-I (RIG-I), and toll-like receptor 3 (TLR3) in urinary sediment from patients with IgAN correlate with histologic parameters...
December 2015: Nephrology
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