4,243 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome


[Genetic causes of stroke in young patients].

Zh Nevrol Psikhiatr Im S S Korsakova 2019 ;119(1):102-109

Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia.

The paper addresses genetic causes of stroke: MELAS, antiphospholipid syndrome, CADASIL, Fabry disease. The etiology and pathogenesis, symptoms, diagnosis, treatment methods of these diseases are described. Read More

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http://dx.doi.org/10.17116/jnevro2019119011102DOI Listing
January 2019

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Mol Genet Metab Rep 2019 Jun 6;19:100454. Epub 2019 Feb 6.

Department of Paediatrics, University of Torino, Torino, Italy.

Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.

Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365982PMC

Migalastat for Fabry disease.

Authors:

Aust Prescr 2019 Feb 13;42(1):36-37. Epub 2018 Dec 13.

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http://dx.doi.org/10.18773/austprescr.2018.073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370600PMC
February 2019

Maternal germline mosaicism in Fabry disease.

Neurol Sci 2019 Feb 14. Epub 2019 Feb 14.

Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy.

Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme. Here, we report on a family of five members: unaffected parents, one unaffected son, and another son and daughter both carrying the same mutation (p.G138E) in the GLA gene. Read More

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http://dx.doi.org/10.1007/s10072-019-03754-1DOI Listing
February 2019

[The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease].

G Ital Nefrol 2019 Feb;36(1)

Professore Ordinario di Nefrologia, Università degli Studi della Campania, Luigi Vanvitelli.

Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8-10). Read More

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February 2019

Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping.

Rofo 2019 Feb 12. Epub 2019 Feb 12.

Neurology, Justus-Liebig-University, Giessen, Germany.

Purpose:  Fabry disease (FD) is an X-linked multi-organ disorder of lysosomal metabolism with cardiac disease being the leading cause of death. Identifying early FD-specific pathologies is important in the context of maximum therapeutic benefit in these stages. Therefore, the aim of this study was to investigate the value of quantitative cardiac T1 mapping as a potential disease-specific surrogate. Read More

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http://dx.doi.org/10.1055/a-0836-2723DOI Listing
February 2019
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Early decrease in the podocalyxin to synaptopodin ratio in urinary Fabry podocytes.

Clin Kidney J 2019 Feb 20;12(1):53-60. Epub 2018 Jul 20.

IFIBIO Houssay, CONICET, Physiopathology, Pharmacy and Biochemistry Faculty, Universidad de Buenos Aires, Buenos Aires, Argentina.

Background: In Fabry nephropathy, podocyturia is an early event that may lead to glomerulosclerosis and chronic kidney disease. The glycocalyx is a potential podocyte damaged compartment in glomerulopathies. We investigated glycocalyx podocalyxin in urinary detached podocytes compared with cytoplasmic synaptopodin. Read More

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http://dx.doi.org/10.1093/ckj/sfy053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366138PMC
February 2019
1 Read

Will the FAbry STabilization indEX make its way to everyday clinical practice?

Clin Kidney J 2019 Feb 24;12(1):61-64. Epub 2018 Dec 24.

Department of Internal Medicine I, Division of Nephrology, University Hospital Würzburg, Würzburg, Germany.

Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani . report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Read More

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http://dx.doi.org/10.1093/ckj/sfy126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366128PMC
February 2019

Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.

J Inherit Metab Dis 2019 Jan 12. Epub 2019 Jan 12.

Greenovation Biotech GmbH, Freiburg, Germany.

Moss-aGalactosidase A (moss-aGal) is a moss-derived version of human α-galactosidase developed for enzyme replacement therapy in patients with Fabry disease. It exhibits a homogenous N-glycosylation profile with >90% mannose-terminated glycans. In contrast to mammalian cell produced α-galactosidase, moss-aGal does not rely on mannose-6-phosphate receptor mediated endocytosis but targets the mannose receptor for tissue uptake. Read More

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http://dx.doi.org/10.1002/jimd.12052DOI Listing
January 2019

Lysosomal storage disease overview.

Authors:
Angela Sun

Ann Transl Med 2018 Dec;6(24):476

Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses. Read More

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http://dx.doi.org/10.21037/atm.2018.11.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331358PMC
December 2018
1 Read

[Hypertrophic cardiomyopathies].

Authors:
O Lairez

Rev Med Interne 2019 Feb 7. Epub 2019 Feb 7.

Fédération médico-chirurgicale de cardiologie, CHU Rangueil, 1, avenue Jean-Poulhès, TSA 50032, 31059 Toulouse cedex 9, France; Centre d'imagerie cardiaque, CHU de Toulouse, 31000 Toulouse, France; Faculté de médecine Toulouse - Purpan, université Paul-Sabatier, 31000 Toulouse, France. Electronic address:

Hypertrophic cardiomyopathies represent a heterogeneous group of pathophysiological mechanisms and etiologies (genetic or not), which lead to the development of left ventricular hypertrophy. Left ventricular hypertrophy, when not explained by a significant and prolonged increase in post-load (such as severe poorly controlled arterial hypertension or severe aortic stenosis) justifies etiological exploration. The etiology may range from physiological adaptation in the athlete to myocardial involvement, isolated or integrated as part of a global neuromuscular involvement; metabolic or mitochondrial disease to deposition disease. Read More

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http://dx.doi.org/10.1016/j.revmed.2019.01.001DOI Listing
February 2019
1 Read

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey.

Nephron 2019 Feb 8:1-8. Epub 2019 Feb 8.

Department of Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul,

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes.

Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Read More

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http://dx.doi.org/10.1159/000496620DOI Listing
February 2019

Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease.

Authors:
Joseph R Berger

Mult Scler Relat Disord 2019 Jan 30;30:45-47. Epub 2019 Jan 30.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, PCAM-South Tower #765, 3400 Convention Avenue, Philadelphia, PA 19104, USA. Electronic address:

Fabry's disease is an X-linked disorder of enzyme alpha-galactosidase A which leads to an accumulation of the glycolipids in lysosomes in vessels and organs. The disorder is rare with an estimated incidence of 1 in 40,000 and disease occurs more rarely in women than men. Paresthesias, hearing loss, and stroke are the typical neurological manifestations. Read More

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http://dx.doi.org/10.1016/j.msard.2019.01.040DOI Listing
January 2019
1 Read

High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease.

Case Rep Nephrol 2019 10;2019:4980942. Epub 2019 Jan 10.

Research Department, School of Medicine, Instituto Universitario Italiano de Rosario, Rosario, Argentina.

Renal involvement is associated with a greater morbidity and mortality in Fabry disease. Pathological albuminuria, the first Fabry nephropathy clinical manifestation, can occur from early childhood, although histological lesions such as tubulo-interstitial fibrosis and glomerulosclerosis are present or may precede the onset of pathological albuminuria. In renal cells, exposure to Lyso-Gb3 is correlated with increased expression of Transforming Growth Factor-eta (TGF-). Read More

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http://dx.doi.org/10.1155/2019/4980942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348857PMC
January 2019

New insights for early assessment of cardiac involvement in Anderson-Fabry disease.

J Nucl Cardiol 2019 Feb 6. Epub 2019 Feb 6.

Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s12350-019-01635-wDOI Listing
February 2019

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Genet Med 2019 Feb 6. Epub 2019 Feb 6.

Amicus Therapeutics, Inc, Cranbury, NJ, USA.

Purpose: Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype.

Methods: Data were evaluated in two subgroups of patients with migalastat-amenable GLA variants: "classic phenotype" (n = 14; males with residual peripheral blood mononuclear cell α-galactosidase A <3% normal and multiorgan system involvement) and "other patients" (n = 36; males not meeting classic phenotype criteria and all females). Endpoints included estimated glomerular filtration rate (eGFR), left ventricular mass index (LVMi), Gastrointestinal Symptoms Rating Scale diarrhea subscale (GSRS-D), renal peritubular capillary (PTC) globotriaosylceramide (GL-3) inclusions, and plasma globotriaosylsphingosine (lyso-Gb). Read More

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http://dx.doi.org/10.1038/s41436-019-0451-zDOI Listing
February 2019
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Fabry disease with acute cerebral infarction onset in a young patient.

Chin Med J (Engl) 2019 Feb;132(4):477-479

Department of Neurology, The First Norman Bethune Hospital of Jilin University, Changchun, Jilin 130021, China.

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http://dx.doi.org/10.1097/CM9.0000000000000089DOI Listing
February 2019

Cornea verticillata in Fabry disease.

Ter Arkh 2018 Dec;90(12):17-22

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia.

Aim: To study the frequency of cornea verticillata in patients with Fabry disease and it's relation to the severity of the disease and the types of mutation in the GLA gene.

Materials And Methods: We studied 69 adult (over 18 years) patients with a classic form of Fabry disease that was confirmed by enzymatic and molecular genetic studies. There were 39 males and 30 females. Read More

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http://dx.doi.org/10.26442/00403660.2018.12.000003DOI Listing
December 2018

Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry Disease in Adults. I. Method and recommendations.

Rev Clin Esp 2019 Jan 25. Epub 2019 Jan 25.

Fundación Enebro, Sevilla, España. Electronic address:

Anderson-Fabry disease is a severe progressive multisystem condition of genetic origin that affects men and women, reducing their life expectancy and quality of life. The considerable variability in its clinical expression, the difficulties in diagnosing the condition and the current availability of several alternatives for its treatment represent a considerable challenge that justifies the development of evidence-based clinical practice guidelines that can help health professionals in the decision-making process for managing these patients. To develop these guidelines, we conducted a systematic search of the main reference databases using strategies adapted to each of the 32 clinical questions considered. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00142565183029
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http://dx.doi.org/10.1016/j.rce.2018.09.017DOI Listing
January 2019
2 Reads

Renal involvement in Fabry disease.

Authors:
Ilkka M Kantola

Nephrol Dial Transplant 2019 Jan 24. Epub 2019 Jan 24.

Faculty of Medicine, Turku University Central Hospital, Turku, Finland.

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http://dx.doi.org/10.1093/ndt/gfy412DOI Listing
January 2019
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The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.

Nephron 2019 Jan 24:1-7. Epub 2019 Jan 24.

National Medical Research Center of Children's Health, Moscow, Russian Federation.

Aim: To evaluate the prevalence and clinical features of Fabry disease in patients with end-stage renal disease (ESRD) undergoing chronic hemodialysis.

Methods: α-Galactosidase A activity was measured in the dried blood spots by tandem mass spectrometry in 5,572 dialysis patients (63.7% males). Read More

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https://www.karger.com/Article/FullText/495886
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http://dx.doi.org/10.1159/000495886DOI Listing
January 2019
3 Reads

Role of cardiac imaging in Anderson-Fabry cardiomyopathy.

Cardiovasc Ultrasound 2019 Jan 23;17(1). Epub 2019 Jan 23.

University of Molise, Health Sciences Department-Campobasso, Campobasso, IT, Italy.

The Anderson-Fabry disease (AFD, or simply Fabry Disease, FD; MIM #301500) is a rare X-linked lysosomal storage disorder (Xq22.1) characterized by progressive renal failure, leading to morbidity through cardio- and cerebro-vascular involvement. Despite the classic phenotype, only cardiac involvement (cardiac variant of AFD; MIM 301500) is frequent in about 40% of male and 28% of female AFD patients, as reported by the Fabry Registry ( https://www. Read More

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http://dx.doi.org/10.1186/s12947-019-0151-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345038PMC
January 2019
1 Read

Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy.

Med Clin (Barc) 2019 Jan 15. Epub 2019 Jan 15.

Nephrology Department, Fundación Puigvert, RedInRen, IIB Sant Pau, University Autónoma, Barcelona, Spain. Electronic address:

Introduction And Objective: Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Although women were historically considered only carriers, many studies have contradicted this fact. The main aim of this work was to set the first Spanish study out of the on-going registries on health status and management of women diagnosed with FD who were not receiving enzyme replacement therapy (ERT). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00257753183074
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http://dx.doi.org/10.1016/j.medcli.2018.10.039DOI Listing
January 2019
5 Reads

Angiokeratomas, not everything is Fabry disease.

Int J Dermatol 2019 Jan 17. Epub 2019 Jan 17.

Dermatopathology Service, Simon Bolívar Hospital, Bogotá, Colombia.

Introduction: Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals.

Methods And Case: We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Read More

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http://dx.doi.org/10.1111/ijd.14330DOI Listing
January 2019
4 Reads

Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.

Sci Rep 2019 Jan 17;9(1):188. Epub 2019 Jan 17.

Department of Endocrinology and Metabolism, Amsterdam University Medical Centers location Academic Medical Center, Amsterdam, The Netherlands.

This study investigates the relationship between objective cognitive impairment (OCI), subjective cognitive complaints and depressive symptoms in men and women with classical and non-classical Fabry disease (FD). Cognitive functioning was assessed using a neuropsychological test battery, subjective cognitive complaints using a structured interview and depressive symptoms using a depression scale (CESD). Eighty-one patients were included (mean age 44. Read More

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http://dx.doi.org/10.1038/s41598-018-37320-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336934PMC
January 2019

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Int J Mol Sci 2019 Jan 15;20(2). Epub 2019 Jan 15.

Rare Metabolic Diseases Unit, Pediatric Department, Fondazione MBBM, Università degli Studi di Milano Bicocca, San Gerardo Hospital, ASST di Monza, 20900 Monza, Italy.

Lysosomal storage diseases (LSD) include a wide range of different disorders with variable degrees of respiratory system involvement. The purpose of this narrative review is to treat the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular pathways known so far to be involved in the pathogenesis of the disease. A literature search was conducted using the Medline/PubMed and EMBASE databases to identify studies, from 1968 through to November 2018, that investigated the respiratory manifestations and molecular pathways affected in LSD. Read More

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http://dx.doi.org/10.3390/ijms20020327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359090PMC
January 2019
1 Read

Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Clin Genet 2019 Jan 15. Epub 2019 Jan 15.

Department of Visceral Surgery, Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1111/cge.13497
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http://dx.doi.org/10.1111/cge.13497DOI Listing
January 2019
4 Reads

Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).

Adv Protein Chem Struct Biol 2019 18;114:341-407. Epub 2018 Dec 18.

Department of Biomedical Sciences, College of Health and Sciences, Qatar University, Doha, Qatar. Electronic address:

Fabry's disease (FD) is the second most commonly occurring lysosomal storage disorders (LSDs). The mutations in α-galactosidase A (GLA) protein were widely found to be causative for the Fabry's disease. These mutations result in alternate splicing methods that affect the stability and function of the protein. Read More

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http://dx.doi.org/10.1016/bs.apcsb.2018.10.009DOI Listing
December 2018
5 Reads
3.036 Impact Factor

[Recognize rare diseases on the skin].

Internist (Berl) 2019 Feb;60(2):193-201

Klinik für Dermatologie und Allergologie, Universitätsklinikum Marburg (UKGM), Baldingerstr. 1, 35043, Marburg, Deutschland.

The correct interpretation of skin manifestations can facilitate the diagnosis of many rare systemic diseases. Such manifestations can be due to autoimmune diseases (e.g. Read More

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http://dx.doi.org/10.1007/s00108-018-0548-5DOI Listing
February 2019
3 Reads

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.

Orphanet J Rare Dis 2019 Jan 7;14(1). Epub 2019 Jan 7.

Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France.

Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline the different clinical and technical considerations the readers have to be aware of to interpret the results of studies dealing with Fabry disease and anti-agalsidase antibodies. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0979-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322341PMC
January 2019
1 Read

Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile.

Chronobiol Int 2019 Jan 7:1-11. Epub 2019 Jan 7.

a Department of Psychobiology , Universidade Federal de Sao Paulo , Sao Paulo , Brazil.

Fabry disease is a progressive disease characterized by an enzymatic deficiency of acid alpha-galactosidase and glycosphingolipids storage within the lysosomes. The disease has two phenotypes: classic and nonclassic. Excessive daytime sleepiness is a common sign reported by patients and can be caused by a circadian rhythm sleep disorder. Read More

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http://dx.doi.org/10.1080/07420528.2018.1560308DOI Listing
January 2019
1 Read

Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease.

Mayo Clin Proc 2019 Jan;94(1):84-88

Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.

The prevalence of Fabry disease (FD) in adult patients with suspected hypertrophic cardiomyopathy (HCM) has been reported between 0.3% and 4%. Fabry disease-specific therapy necessitates early diagnosis; however, the optimal screening strategy and cost efficacy of routine α-galactosidase A (α-gal A) vs comprehensive galactosidase alpha gene (GLA) testing remain poorly understood. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00256196183061
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http://dx.doi.org/10.1016/j.mayocp.2018.08.009DOI Listing
January 2019
11 Reads

Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model.

Neurogastroenterol Motil 2019 Jan 4:e13529. Epub 2019 Jan 4.

Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Bologna, Italy.

Background: Fabry disease (FD) is a hereditary X-linked metabolic storage disorder characterized by deficient or absent lysosomal α-galactosidase A (α-Gal A) activity. This deficiency causes progressive accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3), in nearly all organ systems. Gastrointestinal (GI) symptoms can be very debilitating and are among the most frequent and earliest of the disease. Read More

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http://dx.doi.org/10.1111/nmo.13529DOI Listing
January 2019

Unexpected, But Reasonable Association Between Anderson-Fabry Disease and Coronary Vasospasm.

Circ J 2019 Jan 29;83(2):283-284. Epub 2018 Dec 29.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kyushu University.

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http://dx.doi.org/10.1253/circj.CJ-18-1355DOI Listing
January 2019
1 Read

Acute Decompensated Heart Failure After Initiation of Amiodarone in a Patient With Anderson-Fabry Disease.

Can J Cardiol 2019 Jan 16;35(1):104.e5-104.e7. Epub 2018 Oct 16.

Departments of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

A 54-year-old man with the lysosomal storage disorder Anderson-Fabry disease (AFD) and cardiac involvement was placed on amiodarone for treatment of symptomatic paroxysmal atrial fibrillation. Shortly thereafter, he developed symptoms of acute decompensated heart failure, requiring hospital admission. Endomyocardial biopsy demonstrated findings consistent with AFD and possible amiodarone toxicity. Read More

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http://dx.doi.org/10.1016/j.cjca.2018.10.004DOI Listing
January 2019
1 Read

Lysosomal storage disorders affecting the heart: a review.

Cardiovasc Pathol 2018 Dec 1;39:12-24. Epub 2018 Dec 1.

Department of Pathology and Laboratory Medicine, Ottawa Hospital and Faculty of Medicine, University of Ottawa, 451 Smyth Road, Ottawa, Ontario, K1H 8M5, Canada.

Lysosomal storage disorders (LSD) comprise a group of diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Lysosomal storage disorders result from an accumulation of specific substrates, due to the inability to break them down. The diseases are classified according to the type of material that is accumulated; for example, lipid storage disorders, mucopolysaccharidoses and glycoproteinoses. Read More

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http://dx.doi.org/10.1016/j.carpath.2018.11.002DOI Listing
December 2018
3 Reads

Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.

Mol Genet Metab 2019 Feb 12;126(2):169-182. Epub 2018 Nov 12.

Zentrum für Kinder- und Jugendmedizin der Universitätsmedizin Mainz, Mainz, Germany. Electronic address:

Background: Initiation of enzyme replacement therapy (ERT) early in the Fabry disease course may facilitate better outcomes than in patients with advanced disease. Early diagnosis is often hindered by the heterogeneous nature of signs and symptoms, and by the presentation of atypical phenotypes.

Methods: The Sophisticated Assessment of Disease Burden in Patients with Fabry Disease study (SOPHIA; ClinicalTrials. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.11.005DOI Listing
February 2019

Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.

BMC Med Genet 2018 Dec 27;19(1):219. Epub 2018 Dec 27.

Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China.

Background: Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphingolipids, the substrates of the enzyme, in lysosomes in organs and tissues. Mutations in the α-Gal A gene (GLA, Xq22) have been proven to be responsible for Fabry disease. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0734-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307325PMC
December 2018
7 Reads

Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.

J Am Heart Assoc 2018 Nov;7(21):e009098

1 Division of Cardiology Department of Medicine University of Alberta Edmonton Canada.

Background Because systemic inflammation and endothelial dysfunction lead to heart failure with preserved ejection fraction, we characterized plasma levels of inflammatory and cardiac remodeling biomarkers in patients with Fabry disease ( FD ). Methods and Results Plasma biomarkers were studied in multicenter cohorts of patients with FD (n=68) and healthy controls (n=40). Plasma levels of the following markers of inflammation and cardiac remodeling were determined: tumor necrosis factor ( TNF ), TNF receptor 1 ( TNFR 1) and 2 ( TNFR 2), interleukin-6, matrix metalloprotease-2 ( MMP -2), MMP -8, MMP -9, galectin-1, galectin-3, B-type natriuretic peptide ( BNP ), midregional pro-atrial natriuretic peptide ( MR -pro ANP ), and globotriaosylsphingosine. Read More

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http://dx.doi.org/10.1161/JAHA.118.009098DOI Listing
November 2018
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Prognostic Significance of Cardiac Magnetic Resonance Imaging Late Gadolinium Enhancement in Fabry Disease.

Circulation 2018 Nov;138(22):2579-2581

Division of Cardiology, Peter Munk Cardiac Centre, University Health Network (R.M.I.), University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.037103DOI Listing
November 2018

Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.

JIMD Rep 2019 20;45:95-98. Epub 2018 Dec 20.

Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.

Background: Fabry disease (FD), an X-linked lysosomal storage disease, results from an α-galactosidase A deficiency and altered sphingolipid metabolism. An accumulation of globotriaosylsphingosine (lyso-Gb3) likely triggers the pathological cascade leading to disease phenotype. The pathogenic significance of several Fabry mutations including the R118C α-galactosidase (GLA) gene variant has been disputed. Read More

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http://link.springer.com/10.1007/8904_2018_146
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http://dx.doi.org/10.1007/8904_2018_146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336544PMC
December 2018
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Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease.

Circ J 2019 Jan 18;83(2):481-484. Epub 2018 Dec 18.

Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University.

Background: Although we and others have reported cases of patients with Anderson-Fabry disease (AFD) complicated by coronary spastic angina (CSA), the prevalence of CSA in these patients remains unknown. Methods and Results: We performed the acetylcholine-induced provocation test, according to the Japanese guidelines for the diagnosis and treatment of patients with CSA, in 9 consecutive patients having 5 independent AFD pedigrees. Coronary spasms were provoked in conjunction with symptoms and ECG ischemic changes in 8 of 9 (89%) patients with AFD. Read More

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http://dx.doi.org/10.1253/circj.CJ-18-0734DOI Listing
January 2019

Hot topics in Fabry disease.

Postgrad Med J 2018 Dec 17;94(1118):709-713. Epub 2018 Dec 17.

Department of Internal Medicine, Divisions of Nephrology and Cardiology, University Hospital Würzburg, Würzburg, Germany

Fabry disease is a rare inborn error of the enzyme α-galactosidase (α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years, in particular since enzyme replacement therapy (ERT) has become widely available in 2001. With rising awareness and rising numbers of (diagnosed) patients, physicians encounter new challenges. Read More

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http://dx.doi.org/10.1136/postgradmedj-2018-136056DOI Listing
December 2018
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Whole immunofluorescence staining of podocytes in fabry disease.

Nephrology (Carlton) 2019 Jan;24(1):135

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Nankoku, Japan.

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http://dx.doi.org/10.1111/nep.13259DOI Listing
January 2019

Fabry Disease: Cardiomyopathy Staging.

JACC Cardiovasc Imaging 2018 Dec 6. Epub 2018 Dec 6.

Department of Medical Clinic II, Klinikum Vest, Marl, Germany.

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http://dx.doi.org/10.1016/j.jcmg.2018.05.029DOI Listing
December 2018
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Cross-Sectional Study on MRI Restaging After Chemoradiotherapy and Interval to Surgery in Rectal Cancer: Influence on Short- and Long-Term Outcomes.

Ann Surg Oncol 2019 Feb 13;26(2):437-448. Epub 2018 Dec 13.

Department of Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Background: The time interval between CRT and surgery in rectal cancer patients is still the subject of debate. The aim of this study was to first evaluate the nationwide use of restaging magnetic resonance imaging (MRI) and its impact on timing of surgery, and, second, to evaluate the impact of timing of surgery after chemoradiotherapy (CRT) on short- and long-term outcomes.

Methods: Patients were selected from a collaborative rectal cancer research project including 71 Dutch centres, and were subdivided into two groups according to time interval from the start of preoperative CRT to surgery (< 14 and ≥ 14 weeks). Read More

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http://link.springer.com/10.1245/s10434-018-07097-7
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http://dx.doi.org/10.1245/s10434-018-07097-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341052PMC
February 2019
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Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study.

Nephrol Dial Transplant 2018 Dec 10. Epub 2018 Dec 10.

Department of Medical Endocrinology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Background: Nephropathy is common in Fabry disease (FD). Prior studies of renal function during enzyme replacement therapy (ERT) have primarily used estimated glomerular filtration rate (eGFR). We studied the attrition of renal function in FD by measured GFR (mGFR) and urine protein excretion, and explored the influence of age. Read More

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http://dx.doi.org/10.1093/ndt/gfy357DOI Listing
December 2018
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Extensive Extrapulvinar Calcification in Fabry Disease.

Ann Indian Acad Neurol 2018 Oct-Dec;21(4):309-310

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

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http://dx.doi.org/10.4103/aian.AIAN_476_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238577PMC
December 2018
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