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Fabry disease

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https://www.readbyqxmd.com/read/28526690/emerging-concepts-in-biliary-repair-and-fibrosis
#1
Luca Fabris, Carlo Spirli, Massimiliano Cadamuro, Romina Fiorotto, Mario Strazzabosco
Chronic diseases of the biliary tree (cholangiopathies) represent one of the major unmet needs in clinical hepatology and a significant knowledge gap in liver pathophysiology. The common theme in cholangiopathies is that the target of the disease is the biliary tree. After damage to the biliary epithelium, inflammatory changes stimulate a reparative response with proliferation of cholangiocytes and restoration of the biliary architecture, owing to the re-activation of a variety of morphogenetic signals. Chronic damage and inflammation, will ultimately result in pathologic repair, with generation of biliary fibrosis and clinical progression of the disease...
May 19, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28526293/new-biomarkers-defining-a-novel-early-stage-of-fabry-nephropathy-a-diagnostic-test-study
#2
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Robert Baker, Carlos Cardoso, José Luís Ducla Soares, Derralynn Hughes
BACKGROUND: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2...
May 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28523190/expression-of-upar-in-urinary-podocytes-of-patients-with-fabry-disease
#3
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, Juan Politei, Cristian Costales-Collaguazo, Aníbal Stern, Matías Paulero, Tatiana Rengel, Lara Valiño-Rivas, Mariano Forrester, Fernando Lombi, Vanesa Pomeranz, Romina Iriarte, Alexis Muryan, Alberto Ortiz, María Dolores Sanchez-Niño, Elsa Zotta
Background. Despite enzyme replacement therapy, Fabry nephropathy still progresses. Podocyturia is an irreversible event that antedates proteinuria and leads to chronic renal failure. We evaluated a potential mechanism of podocyte detachment via the expression of the urokinase-type Plasminogen Activator Receptor (uPAR) in urinary podocytes of Fabry patients. Methods. This is a cross-sectional study that included controls (n = 20) and Fabry patients (n = 44) either untreated (n = 23) or treated with agalsidase-β (n = 21)...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28510034/improvement-of-fabry-disease-related-gastrointestinal-symptoms-in-a-significant-proportion-of-female-patients-treated-with-agalsidase-beta-data-from-the-fabry-registry
#4
William R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M Lemay, Ana Jovanovic, Dominique P Germain, Carmen Varas, Katherine Nicholls, Frank Weidemann, Robert J Hopkin
Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28507907/effectiveness-of-enzyme-replacement-therapy-in-fabry-disease-long-term-experience-in-argentina
#5
Gustavo Cabrera, Juan Politei, Norberto Antongiovani, Hernán Amartino
Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters. METHODS: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Renal, cardiac, and cerebral outcomes were prospectively studied in patients treated with ERT...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28500230/conjunctival-lymphangiectasia-associated-with-classic-fabry-disease
#6
Melanie D Sivley, Eric L Wallace, David G Warnock, William J Benjamin
BACKGROUND: Fabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD. METHODS: We examined the eyes of a cohort of 13 adult patients, eight men and five women, with documented classic FD, all treated with enzyme replacement therapy (ERT) at the University of Alabama at Birmingham between February 2014 and April 2015...
May 12, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28499424/ultrastructural-deposits-appearing-as-zebra-bodies-in-renal-biopsy-fabry-disease-comparative-case-reports
#7
Precil Diego Miranda de Menezes Neves, Juliana Reis Machado, Fabiano Bichuette Custódio, Maria Luíza Gonçalves Dos Reis Monteiro, Shigueo Iwamoto, Marlene Freire, Marisa França Ferreira, Marlene Antônia Dos Reis
BACKGROUND: Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced renal phospholipidosis. CASE PRESENTATION: Case 1: A 28-year-old female patient with systemic lupus erythematosus who had been using hydroxychloroquine for 14 months presented subnephrotic proteinuria. Renal biopsy showed deposits compatible with FD...
May 12, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28497441/-cryptogenic-stroke-in-a-young-patient-with-heart-disease-and-kidney-failure
#8
B Oyanguren, R Segoviano, E Alegria, E Besada, M Gonzalez-Salaices, M Eimil-Ortiz, C Lopez de Silanes
INTRODUCTION: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms. CASE REPORT: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction...
May 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28496025/identification-of-a-novel-gla-gene-mutation-p-ile239met-in-fabry-disease-with-a-predominant-cardiac-phenotype
#9
Beáta Csányi, Lidia Hategan, Viktória Nagy, Izabella Obál, Edina T Varga, János Borbás, Annamária Tringer, Sabrina Eichler, Tamás Forster, Arndt Rolfs, Róbert Sepp
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. A 69 year-old female index patient with a clinical history of renal failure, hypertrophic cardiomyopathy, and 2nd degree AV block was screened for mutation in the GLA gene...
May 12, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28495078/favourable-effect-of-early-versus-late-start-of-enzyme-replacement-therapy-on-plasma-globotriaosylsphingosine-levels-in-men-with-classical-fabry-disease
#10
Maarten Arends, Frits A Wijburg, Christoph Wanner, Frédéric M Vaz, André B P van Kuilenburg, Derralynn A Hughes, Marieke Biegstraaten, Atul Mehta, Carla E M Hollak, Mirjam Langeveld
BACKGROUND: The level of plasma globotriaosylsphingosine (lysoGb3) is an indication of disease severity in Fabry disease (FD) and its decrease during enzyme replacement therapy could be a reflection of treatment efficacy. Early treatment of FD may improve clinical outcome, but data to support this hypothesis are scarce. In this study we compared lysoGb3 decrease after ERT initiation in men with classical FD who started ERT before the age of 25 (early-treatment) with those who started later in life (late-treatment)...
May 4, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28470357/auditing-the-frequency-and-the-clinical-and-economic-impact-of-testing-for-fabry-disease-in-patients-under-the-age-of-70-with-a-stroke-admitted-to-saint-vincent-s-university-hospital-over-a-6-month-period
#11
J Lambe, I Noone, R Lonergan, N Tubridy
BACKGROUND: Fabry disease is an X-linked recessive lysosomal storage disorder that provokes multi-organ morbidity, including early-onset stroke. Worldwide prevalence may be greater than previously estimated, with many experiencing first stroke prior to diagnosis of Fabry disease. AIMS: The aim of this study is to screen a cohort of stroke patients under 70 years of age, evaluating the clinical and economic efficacy of such a broad screening programme for Fabry disease...
May 3, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#12
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28456989/methods-for-determination-of-%C3%AE-glycosidase-%C3%AE-glycosidase-and-%C3%AE-galactosidase-activities-in-dried-blood-spot-samples
#13
Eser Yıldırım Sozmen, Ebru Demirel Sezer
The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28430823/modulation-the-alternative-splicing-of-gla-ivs4-919g-a-in-fabry-disease
#14
Wen-Hsin Chang, Dau-Ming Niu, Chi-Yu Lu, Shyr-Yi Lin, Ta-Chih Liu, Jan-Gowth Chang
While a base substitution in intron 4 of GLA (IVS4+919G>A) that causes aberrant alternative splicing resulting in Fabry disease has been reported, its molecular mechanism remains unclear. Here we reported that upon IVS4+919G>A transversion, H3K36me3 was enriched across the alternatively spliced region. PSIP1, an adapter of H3K36me3, together with Hsp70 and NONO were recruited and formed a complex with SF2/ASF and SRp20, which further promoted GLA splicing. Amiloride, a splicing regulator in cancer cells, could reverse aberrant histone modification patterns and disrupt the association of splicing complex with GLA...
2017: PloS One
https://www.readbyqxmd.com/read/28429522/globotriaosylsphingosine-induces-oxidative-dna-damage-in-cultured-kidney-cells
#15
Giovana Brondani Biancini, Ana Moira Morás, Luiza Steffens Reinhardt, Franciele Faccio Busatto, Nathalia Denise de Moura Sperotto, Jenifer Saffi, Dinara Jaqueline Moura, Roberto Giugliani, Carmen Regla Vargas
Fabry disease (FD) is a lysosomal disorder caused by mutations leading to a deficient activity α-galactosidase A with progressive and systemic accumulation of its substrates. Substrates deposition is related to tissue damage in FD, but the underlying molecular mechanisms remain not completely understood. DNA damage has been associated with disease progression in chronic diseases and was recently described in high levels in Fabry patients. Once renal complications are major morbidity causes in FD, we investigated the effects of the latest biomarker for FD - globotriaosylsphingosine (lyso-Gb3) in a cultured renal lineage - human embryonic kidney cells (HEK-293 T) - on DNA damage...
June 2017: Nephrology
https://www.readbyqxmd.com/read/28427383/is-ischemia-the-only-factor-predicting-cardiovascular-outcomes-in-all-diabetes-mellitus-patients
#16
REVIEW
Mark W Kennedy, Enrico Fabris, Harry Suryapranata, Elvin Kedhi
Diabetes mellitus (DM) is associated with an excess in cardiovascular morbidity and mortality, and is characterized by increased rates of coronary artery disease. Furthermore, once atherosclerosis is established, this is associated with an increased extent, complexity and a more rapid progression than seen in non-DM patients. Ischemia is the single most important predictor of future hard cardiac events and ischemia correction remains the cornerstone of current revascularization strategies. However recent data suggests that, in DM patients, coronary atherosclerosis despite the absence of ischemia, detected by either invasive or non-invasive methods, may not be associated with the same low risk of future cardiac events as seen in non-DM patients...
April 20, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28420071/pleuropulmonary-involvement-in-patients-with-systemic-lupus-erythematosus-from-a-latin-american-inception-cohort-gladel
#17
M J Haye Salinas, F Caeiro, V Saurit, A Alvarellos, D Wojdyla, H R Scherbarth, A C de O E Silva, J C Tavares Brenol, L T Lavras Costallat, O J Neira, A Iglesias Gamarra, G Vásquez, G A Reyes Llerena, L A Barile-Fabris, L H Silveira, M J Sauza Del Pozo, E M Acevedo Vásquez, J L Alfaro Lozano, M H Esteva Spinetti, G S Alarcón, B A Pons-Estel
Objectives The objectives of this study were to examine the demographic and clinical features associated with the occurrence of pleuropulmonary manifestations, the predictive factors of their occurrence and their impact on mortality in systemic lupus erythematosus (SLE) patients. Materials and methods The association of pleuropulmonary manifestations with demographic and clinical features, the predictive factors of their occurrence and their impact on mortality were examined in GLADEL patients by appropriate univariable and multivariable analyses...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#18
Nadia Ali, Scott Gillespie, Dawn Laney
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28409012/enhancing-the-diagnosis-of-fabry-disease-in-cardiology-with-a-targeted-information-a-before-after-control-impact-study
#19
Anne-Louise Savary, Remy Morello, Carole Brasse-Lagnel, Paul Milliez, Soumeya Bekri, Fabien Labombarda
BACKGROUND: Cardiac complications in Fabry disease are frequent and dominated by a high frequency of left ventricular hypertrophy; therefore, cardiologists may have an essential role in screening for this disease. Providing cardiologists with targeted information on Fabry disease would be valuable and could reduce both diagnostic and therapeutic delays. The aim of this study was to evaluate the efficiency of such strategy for Fabry screening. METHODS: We conducted a before-after control-impact study by comparing observations made before and after targeted information on Fabry disease among cardiologists...
2017: Open Heart
https://www.readbyqxmd.com/read/28404808/use-of-rs-fmri-in-fabry-disease-do-we-need-it
#20
EDITORIAL
Antonio Siniscalchi
No abstract text is available yet for this article.
May 9, 2017: Neurology
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