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Artykuły w czasopismach na temat „Anderson-Fabry disease”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Di Toro, Alessandro, Valentina Favalli, and Eloisa Arbustini. "Anderson–Fabry disease." Journal of Cardiovascular Medicine 19 (February 2018): e1-e5. http://dx.doi.org/10.2459/jcm.0000000000000637.

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Beirão, Idalina, Ana Cabrita, Márcia Torres, Fernando Silva, Patricio Aguiar, and Ana Marta Gomes. "Anderson-Fabry Disease." Journal of Inborn Errors of Metabolism and Screening 4 (July 29, 2016): 232640981666937. http://dx.doi.org/10.1177/2326409816669372.

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3

WALLACE, H. J. "Anderson-Fabry disease*." British Journal of Dermatology 88, no. 1 (2006): 1–24. http://dx.doi.org/10.1111/j.1365-2133.1973.tb06666.x.

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4

Morgan, S. H., and M. A. Crawfurd. "Anderson-Fabry disease." BMJ 297, no. 6653 (1988): 872–73. http://dx.doi.org/10.1136/bmj.297.6653.872.

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5

Duro, Giovanni, and Marco Lombardi. "Anderson-Fabry disease. Conclusion." Giornale di Tecniche Nefrologiche e Dialitiche 29, no. 1_suppl (2017): S35—S36. http://dx.doi.org/10.5301/gtnd.2017.17369.

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Duro, Giovanni, and Marco Lombardi. "Anderson-Fabry disease. Introduction." Giornale di Tecniche Nefrologiche e Dialitiche 29, no. 1_suppl (2017): S1—S2. http://dx.doi.org/10.5301/gtnd.2017.17370.

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7

Esposito, Roberta, Ciro Santoro, Giulia Elena Mandoli, et al. "Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future." Journal of Clinical Medicine 10, no. 9 (2021): 1994. http://dx.doi.org/10.3390/jcm10091994.

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Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Cardiac imaging plays a key role in the evaluation and management of Anderson-Fabry disease patients. The present review highlights the value and perspectives of standard and advanced car

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8

Tuttolomondo, Antonino, Rosaria Pecoraro, Irene Simonetta, Salvatore Miceli, Antonio Pinto, and Giuseppe Licata. "Anderson-Fabry Disease: A Multiorgan Disease." Current Pharmaceutical Design 19, no. 33 (2013): 5974–96. http://dx.doi.org/10.2174/13816128113199990352.

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9

Kes, Petar, Vesna Furic-Curko, and Nikolina Basic-Jukic. "Anderson-Fabry Disease in Females." BANTAO Journal 12, no. 1 (2015): 20–26. http://dx.doi.org/10.2478/bj-2014-0005.

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AbstractAnderson-Fabry disease (AFD) is the second most common lysosomal storage disease. This is an X-linked disorder due to lysosomal enzyme deficiency of a-galac-tosidasae A, that results in accumulation of globotriaosyl-ceramide in various tissues leading to organ damage, and resulting in a variety of cardiovascular, renal, neural, der-matological, psychological signs and symptoms. Despite being X-linked, heterozygous females can suffer from symptoms equally severe as male hemizygotes. This paper presents signs, symptoms, specific diagnostic approach and treatment possibilities of AFD in f

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10

Simonetta, Irene, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli, and Antonio Pinto. "Treatment of Anderson-Fabry Disease." Current Pharmaceutical Design 26, no. 40 (2020): 5089–99. http://dx.doi.org/10.2174/1381612826666200317142412.

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: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific lab

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11

Simonetta, Irene, Antonino Tuttolomondo, Mario Daidone, and Antonio Pinto. "Biomarkers in Anderson–Fabry Disease." International Journal of Molecular Sciences 21, no. 21 (2020): 8080. http://dx.doi.org/10.3390/ijms21218080.

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Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the manag

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12

Lillo, Rosa, Maurizio Pieroni, Antonia Camporeale, et al. "Echocardiography in Anderson-Fabry Disease." Reviews in Cardiovascular Medicine 23, no. 6 (2022): 201. http://dx.doi.org/10.31083/j.rcm2306201.

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13

Sestito, Simona, Ferdinando Ceravolo, and Daniela Concolino. "Anderson-Fabry Disease in Children." Current Pharmaceutical Design 19, no. 33 (2013): 6037–45. http://dx.doi.org/10.2174/13816128113199990345.

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14

Bartolotta, Caterina, Marcello Filogamo, Paolo Colomba, et al. "FP907HISTORY OF ANDERSON - FABRY DISEASE." Nephrology Dialysis Transplantation 30, suppl_3 (2015): iii379. http://dx.doi.org/10.1093/ndt/gfv186.08.

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15

Linhart, A. "Treatment of Anderson Fabry disease." Heart 94, no. 2 (2008): 138–39. http://dx.doi.org/10.1136/hrt.2006.113886.

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16

Lorenz, Matthias, Anna-Christina Hauser, Margot Püspök-Schwarz, et al. "Anderson-Fabry disease in Austria." Wiener Klinische Wochenschrift 115, no. 7-8 (2003): 235–40. http://dx.doi.org/10.1007/bf03040321.

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17

Pichkur, N. O. "ANDERSON-FABRY DISEASE: MANIFESTATION AND PROGNOSIS." Ukrainian Journal of Nephrology and Dialysis, no. 3(39) (December 12, 2017): 46–50. http://dx.doi.org/10.31450/ukrjnd.3(39).2013.07.

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The aim of the study was to describe diagnostic and treatment experience of Fabry disease in Ukraine, rare inherited multisystem metaboliс disorder with chronic kidney insufficiency as one of signs. The diagnosis was found in nine years old boy with acroparestesia and multiply angiokeratomas after enzymodiagnostic test (determination of lysosomal enzyme alpha-galactosidase A activity level in peripheral blood leucocytes). The parents gave consent to examine of the other child in family, 19 years old boy with myeloradiculonevritis and inferior paraparesis, and glomerulonephritis presented by pr

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18

Pistone, Giuseppe, Rosario Gurreri, and Maria Rita Bongiorno. "Dermatological manifestations of Anderson-Fabry disease." Giornale di Tecniche Nefrologiche e Dialitiche 29, no. 1_suppl (2017): S16—S19. http://dx.doi.org/10.5301/gtnd.2017.17392.

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19

Giordano, Antonello. "Neurological aspects of Anderson-Fabry disease." Giornale di Tecniche Nefrologiche e Dialitiche 29, no. 1_suppl (2017): S20—S21. http://dx.doi.org/10.5301/gtnd.2017.17456.

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20

Dudina, T. V., A. G. Stolyar, and A. F. Tomilov. "Clinical observations of Fabry-Anderson disease." Nephrology and Dialysis 20, no. 4 (2018): 404–10. http://dx.doi.org/10.28996/2618-9801-2018-4-404-410.

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21

Tuttolomondo, Antonino, Irene Simonetta, and Antonio Pinto. "Gene Therapy of Anderson-Fabry Disease." Current Gene Therapy 19, no. 1 (2019): 3–5. http://dx.doi.org/10.2174/1566523219999190415160632.

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22

Buda, Piotr, Janusz Ksiazyk, and Anna Tylki-Szymaska. "Gastroenterological Complications of Anderson-Fabry Disease." Current Pharmaceutical Design 19, no. 33 (2013): 6009–13. http://dx.doi.org/10.2174/13816128113199990347.

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23

Pistone, Giuseppe, Daniele Rizzo, and Maria Bongiorno. "Cutaneous Complications of Anderson-Fabry Disease." Current Pharmaceutical Design 19, no. 33 (2013): 6031–36. http://dx.doi.org/10.2174/13816128113199990359.

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24

Tuttolomondo, Antonino, Rosaria Pecoraro, Irene Simonetta, et al. "Neurological Complications of Anderson-Fabry Disease." Current Pharmaceutical Design 19, no. 33 (2013): 6014–30. http://dx.doi.org/10.2174/13816128113199990387.

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25

Toribio, Jaime, Alvaro Leon-Mateos, Virginia Fernández-Redondo, and Andrés Beiras. "Anderson-Fabry Disease: Enzyme Replacement Therapy." Acta Dermato-Venereologica 84, no. 1 (2003): 88–89. http://dx.doi.org/10.1080/00015550310020602.

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26

Weidemann, F., J. M. Strotmann, F. Breunig, et al. "Misleading terms in Anderson-Fabry disease." European Journal of Clinical Investigation 38, no. 3 (2008): 191–96. http://dx.doi.org/10.1111/j.1365-2362.2008.01921.x.

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27

Buchko, O. Y., and V. M. Akimova. "LABORATORY MARKERS OF ANDERSON-FABRY DISEASE." Ukrainian Journal of Laboratory Medicine 2, no. 4 (2024): 26–31. https://doi.org/10.62151/2786-9288.2.4.2024.04.

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The article highlights the key aspects of Anderson-Fabry disease, a rare genetic disorder characterized by lipid accumulation in cells due to a deficiency of the enzyme α-galactosidase A. The study provides a detailed review of the history, primary causes, and pathogenetic mechanisms of the disease. It describes various internal organ damages associated with the pathology. Special attention is given to laboratory markers of the disease, such as Lyso-Gb3, Gb3, and other indicators, which play a critical role in the diagnosis and monitoring of the condition. Modern genetic and instrumental diagn

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28

Nicoletti, Angela, Simona Sestito, Francesca Falvo, et al. "Neurological Findings in Anderson-Fabry Disease." Journal of Pediatric Biochemistry 06, no. 01 (2016): 053–59. http://dx.doi.org/10.1055/s-0036-1582223.

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29

O'Mahony, Constantinos, and Perry Elliott. "Anderson-Fabry Disease and the Heart." Progress in Cardiovascular Diseases 52, no. 4 (2010): 326–35. http://dx.doi.org/10.1016/j.pcad.2009.11.002.

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30

Bengtsson, Bengt-Åke, Jan-Ove Johansson, Carla Hollak, Gabor Linthorst, and Ulla FeldtRasmussen. "Enzyme replacement in Anderson-Fabry disease." Lancet 361, no. 9354 (2003): 352. http://dx.doi.org/10.1016/s0140-6736(03)12357-4.

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31

Kampmann, Christoph, Christiane M. Wiethoff, A. Perrot, Michael Beck, Rainer Dietz, and Karl J. Osterziel. "The heart in Anderson Fabry disease." Zeitschrift für Kardiologie 91, no. 10 (2002): 786–95. http://dx.doi.org/10.1007/s00392-002-0848-5.

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32

Cecchi, Franco, Anna Frullini, Iacopo Olivotto, et al. "Hypertrophic Cardiomyopathy in Anderson-Fabry Disease." Clinical Therapeutics 29 (January 2007): S93—S94. http://dx.doi.org/10.1016/s0149-2918(07)80463-2.

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33

Akhtar, M. M., and P. M. Elliott. "Anderson-Fabry disease in heart failure." Biophysical Reviews 10, no. 4 (2018): 1107–19. http://dx.doi.org/10.1007/s12551-018-0432-5.

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34

Kampmann, Christoph, Frank Baehner, Markus Ries, and Michael Beck. "Cardiac Involvement in Anderson-Fabry Disease." Journal of the American Society of Nephrology 13, suppl 2 (2002): S147—S149. http://dx.doi.org/10.1097/01.asn.0000015238.98011.af.

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35

Kolodny, Edwin H., and Gregory M. Pastores. "Anderson-Fabry Disease: Extrarenal, Neurologic Manifestations." Journal of the American Society of Nephrology 13, suppl 2 (2002): S150—S153. http://dx.doi.org/10.1097/01.asn.0000015239.57436.18.

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36

Cauti, F. M., C. O'Mahony, and A. Pantazis. "Cardiac involvement in Anderson-Fabry disease." Case Reports 2010, aug23 1 (2010): bcr0220102760. http://dx.doi.org/10.1136/bcr.02.2010.2760.

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37

Elliott, P., R. Baker, F. Pasquale, et al. "Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey." Heart 97, no. 23 (2011): 1957–60. http://dx.doi.org/10.1136/heartjnl-2011-300364.

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38

Dimova, M., M. Gospodinova, K. Genova, E. Paskalev та V. Velchev. "А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease". Bulgarian Cardiology 31, № (1) (2025): 102–8. https://doi.org/10.3897/bgcardio.31.e149169.

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Anderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of the heart, kidney and brain dysfunction. Cardiac involvement includes the development of hypertrophic cardiomyopathy, conduction disorders and less common - valvular disease. Among patients with hypertrophic cardiomyopathy, about 0.5-1% are due to Anderson-Fabry disease. We present a clinical case of a man diagnosed with Anderson-Fabry disease, the clinical suspicion of which was raised base

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39

Dimova, M., M. Gospodinova, K, Genova, E. Paskalev та V. Velchev. "А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease". Bulgarian Cardiology 31, № 1 (2025): 102–8. https://doi.org/10.3897/bgcardio.31.e149169.

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Anderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of &nbsp;the heart, kidney and brain dysfunction. Cardiac involvement includes the development of hypertrophic cardiomyopathy, conduction disorders and less common - valvular disease. Among patients with hypertrophic cardiomyopathy, about 0.5-1% are due to Anderson-Fabry disease. We present a clinical case of a man diagnosed with Anderson-Fabry disease, the clinical suspicion of which was r

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40

Nowicki, Michał, Stanisława Bazan-Socha, Mariusz Kłopotowski, et al. "Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond." International Journal of Environmental Research and Public Health 18, no. 16 (2021): 8242. http://dx.doi.org/10.3390/ijerph18168242.

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Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home tre

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41

Lillo, Rosa, Francesca Graziani, Elena Panaioli, et al. "Right ventricular strain in Anderson-Fabry disease." International Journal of Cardiology 330 (May 2021): 84–90. http://dx.doi.org/10.1016/j.ijcard.2021.02.038.

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42

Dostálová, Gabriela, Lenka Roblová, Petra Reková, et al. "Anderson-Fabry disease and gastrointestinal tract involvement." Gastroenterologie a Hepatologie, In press (April 15, 2020): 158–62. http://dx.doi.org/10.14735/amgh2020158.

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43

Giovannetti, Francesca, Mattia D’Andrea, Federico Bracci, et al. "Anderson–Fabry Disease: Focus on Ophthalmological Implications." Life 14, no. 12 (2024): 1531. http://dx.doi.org/10.3390/life14121531.

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Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward. However, when residual activity is present, the delayed and less obvious presentation can ma

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44

Sessa, Adalberto, Mietta Meroni, Graziana Battini, et al. "‘Atypical’ Clinical Variants of Anderson-Fabry Disease." Nephron 89, no. 4 (2001): 469–70. http://dx.doi.org/10.1159/000046124.

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45

Woolley, J., and A. C. Pichel. "Peri-operative considerations for Anderson-Fabry disease." Anaesthesia 63, no. 1 (2007): 101–2. http://dx.doi.org/10.1111/j.1365-2044.2007.05387.x.

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46

Pastores, Gregory M., and Ravi Thadhani. "Enzyme-replacement therapy for Anderson-Fabry disease." Lancet 358, no. 9282 (2001): 601–3. http://dx.doi.org/10.1016/s0140-6736(01)05816-0.

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47

Gambarin, Fabiana I., Eliana Disabella, Jagat Narula, et al. "When Should Cardiologists Suspect Anderson-Fabry Disease?" American Journal of Cardiology 106, no. 10 (2010): 1492–99. http://dx.doi.org/10.1016/j.amjcard.2010.07.016.

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48

Mendes, Carmen, Maria Lucia Borri, Patricia Feliciano, et al. "MRI Findings in Anderson- Fabry disease(AFD)." Molecular Genetics and Metabolism 102, no. 2 (2011): S29. http://dx.doi.org/10.1016/j.ymgme.2010.11.098.

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Radcliffe, K. W., and B. A. Evans. "Anderson-Fabry disease (angiokeratoma corporis diffusum universale)." Sexually Transmitted Infections 66, no. 5 (1990): 399–400. http://dx.doi.org/10.1136/sti.66.5.399.

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50

Benchekroun, Y., K. Zniber, M. Bennani, H. Bouzelmat, A. Chaib, and A. Benyass. "Anderson-Fabry Disease: A Disease with Polymorphic Cardiac Involvement." SAS Journal of Medicine 8, no. 6 (2022): 392–96. http://dx.doi.org/10.36347/sasjm.2022.v08i06.003.

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Fabry disease (FD) is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A). This 65 year-old male was follow-up in dermatology department since 1972 for angiokeratoma corporis. He was being explored for cardiac symptoms : dyspnea and atypical chest pain. His echocardiography revealed hypertrophic cardiomyopathy initially, and his coronarography was normal. The diagnosis of Fabry disease was evoked clinically and then confirmed by deficiency of alpha-galactosidase α-Gal A activity. The evolution was mar

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