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    3765 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers.
    Retina 2017 Mar;37(3):592-603
    *Internal Medicine Department, Reina Sofía Universitary Hospital, Murcia, Spain;†Ophthalmology Department, Arrixaca Universitary Hospital, Murcia University, Murcia, Spain;‡Department of Ophthalmology, Careggi Teaching Hospital, Florence, Italy;§Department of Engineering and Mathematical Sciences, University of Siena, Siena, Italy; andDepartments of ¶ENT, and**Cardiology, Arrixaca Universitary Hospital, Murcia, Spain.
    Purpose: Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. Read More

    Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
    Mol Genet Metab Rep 2017 Mar 3;10:92-95. Epub 2017 Feb 3.
    Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, CSUR de Errores Congénitos del Metabolismo, Madrid, Spain.
    Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. Read More

    A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
    Hum Genome Var 2017 16;4:17002. Epub 2017 Feb 16.
    Department of Pediatrics, Graduate School of Medical Science, Kumamoto University , Kumamoto, Japan.
    A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p. Read More


    Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C.
    Front Physiol 2017 31;8:39. Epub 2017 Jan 31.
    Instituto de Investigación Sanitaria AragónZaragoza, Spain; Aragón Institute of Health SciencesZaragoza, Spain; Centro de Investigación Biomédica en Red de Enfermedades RarasZaragoza, Spain; Aragón Agency for Research and DevelopmentZaragoza, Spain.
    The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K(+)-efflux, cell volume, and membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of KCa3. Read More

    Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.
    Medicine (Baltimore) 2017 Feb;96(6):e6063
    aDepartment of Pediatrics, Asan Medical Center Children's Hospital bDivision of Cardiology, Cardiac Imaging Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
    Rationale: Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions.

    Patient Concerns, Diagnoses, Interventions, And Outcomes: Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagulation for atrial fibrillation. Read More

    A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
    BMC Neurol 2017 Feb 6;17(1):25. Epub 2017 Feb 6.
    Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
    Background: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations.

    Methods: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015). Read More

    Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice.
    Clin Immunol 2017 Feb 2. Epub 2017 Feb 2.
    Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan. Electronic address:
    Formation of antibodies against a therapeutic enzyme is an important complication during enzyme replacement therapy (ERT) for lysosomal storage diseases. Fabry disease (FD) is caused by a deficiency of alpha-galactosidase (GLA), which results in the accumulation of globotriaosylceramide (GL-3). We have shown immune tolerance induction (ITI) during ERT in FD model mice by using an anti-B lymphocyte stimulator (anti-BlyS) antibody (belimumab). Read More

    Inherited and Uncommon Causes of Stroke.
    Continuum (Minneap Minn) 2017 Feb;23(1, Cerebrovascular Disease):211-237
    Purpose Of Review: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke.

    Recent Findings: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia. Read More

    Clinical and pathological characteristics of Fabry disease combined with IgA nephropathy in Chinese patients
.
    Clin Nephrol 2017 Feb 3. Epub 2017 Feb 3.
    Aims: To improve diagnosis and treatment, we characterized Fabry disease combined with IgA nephropathy and its response to treatment clinically and pathologically in Chinese patients.

    Materials And Methods: Clinical and pathological characteristics of 6 Chinese patients with renal biopsy-proven Fabry disease combined with IgA nephropathy were retrospectively analyzed.

    Results: There were 4 males and 2 females in this study. Read More

    Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease.
    Cardiology 2017 Feb 3;137(2):67-73. Epub 2017 Feb 3.
    Department of Cardiology, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
    We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. Read More

    When arthralgia is not arthritis.
    Eur J Rheumatol 2016 Dec 5;3(4):182-184. Epub 2016 Apr 5.
    Department of Neurology, Division, of Neurometabolism, Foundation for Study of Neurometabolic Diseases, (FESEN), Buenos Aires, Argentina.
    The presence of distal extremity pain in children and adolescents usually triggers the search of rheumatologic diseases without considering non-rheumatologic causes of joint pain. Approaching distal extremity pain with a complete differential diagnosis, including non-rheumatologic entities, may hasten diagnosis, thus decreasing cost and aiding in earlier initiation of appropriate therapy. To present a case of a patient who after years of work up of arthralgia, which was actually attributed to rheumatologic causes, had an inherited metabolic disease. Read More

    Cutting edge clinical applications in cardiovascular magnetic resonance.
    World J Radiol 2017 Jan;9(1):1-4
    Carlo N De Cecco, Akos Varga-Szemes, U Joseph Schoepf, Division of Cardiovascular Imaging, Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, United States.
    Today, the use of cardiovascular magnetic resonance (CMR) is widespread in clinical practice. The increased need to evaluate of subtle myocardial changes, coronary artery anatomy, and hemodynamic assessment has prompted the development of novel CMR techniques including T1 and T2 mapping, non-contrast angiography and four dimensional (4D) flow. T1 mapping is suitable for diagnosing pathologies affecting extracellular volume such as myocarditis, diffuse myocardial fibrosis and amyloidosis, and is a promising diagnostic tool for patients with iron overload and Fabry disease. Read More

    Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.
    Mol Ther Nucleic Acids 2016 ;5:e380
    Neuroscience, Psychology, Pharmacology and Child Health Department, University of Florence, Florence, Italy; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy. Electronic address:
    Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (α-Gal A) enzyme, which is encoded by the GLA gene. GLA transcription in humans produces a major mRNA encoding α-Gal A and a minor mRNA of unknown function, which retains a 57-nucleotide-long cryptic exon between exons 4 and 5, bearing a premature termination codon. NM_000169. Read More

    Basilar Artery Changes in Fabry Disease.
    AJNR Am J Neuroradiol 2017 Jan 26. Epub 2017 Jan 26.
    From the Sezione di Neuroscienze (R.M.), University of Salerno, Salerno, Italy; Radiology Division (R.Y.C., F.C.) and Division of Medical Genetics (F.C., D.P.G.), University of Versailles, Versailles, France; Department of Neurosciences (S.R., V.C., M.E.), University of Padova, Padova, Italy; S. Giovanni e Ruggi d'Aragona Hospital (G.L.), Salerno, Italy; and Neurological Unit (A.B.), St. Bassiano Hospital, Bassano del Grappa, Italy.
    Background And Purpose: Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease. Read More

    Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.
    Future Sci OA 2016 Dec 13;2(4):FSO147. Epub 2016 Oct 13.
    University Health Network, Toronto, Ontario, M5G 1L7, Canada; Department of Medical Biophysics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario, M5S 1A8, Canada; University Health Network, Toronto, Ontario, M5G 1L7, Canada; Department of Medical Biophysics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario, M5S 1A8, Canada.
    Aim: Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb3) in tissues. Clinical manifestations do not appear to correlate with total Gb3 levels. Studies examining tissue distribution of specific acyl chain species of Gb3 and upstream glycosphingolipids are lacking. Read More

    Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.
    Clin Chim Acta 2017 Mar 18;466:185-193. Epub 2017 Jan 18.
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC.
    Background: Fabry disease is a lysosomal storage disorder with an incidence of 1:1600 for the late-onset IVS4+919G>A cardiac variant mutation in Taiwan. Signs and symptoms of this cardiac variant include left ventricular hypertrophy, mitral insufficiency and/or arrhythmias. The search for biomarkers that might predict the clinical outcomes and guide treatment options is important. Read More

    [Fabry disease].
    Ann Dermatol Venereol 2017 Feb 16;144(2):137-146. Epub 2017 Jan 16.
    Département de dermatologie, Hôpital Hôtel-Dieu de France, Faculté de médecine, Université Saint-Joseph, Beyrouth, Liban.
    Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease. Read More

    Ventricular Tachycardia in Fabry Disease Detected in a 50-Year-Old Woman during 14-Day Continuous Cardiac Monitoring.
    Tex Heart Inst J 2016 Dec 1;43(6):531-533. Epub 2016 Dec 1.
    Fabry disease is an X-linked lysosomal storage disorder. Female carriers were long thought to be asymptomatic; however, research has revealed the opposite. Cardiac conditions are the chief causes of death in women with Fabry disease. Read More

    Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.
    J Cell Physiol 2017 Jan 18. Epub 2017 Jan 18.
    Department of Experimental Medicine, Biotechnology and Molecular Biology Section, Second University of Naples, Naples, Italy.
    Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD), and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Read More

    Time delays in the diagnosis and treatment of Fabry disease.
    Int J Clin Pract 2017 Jan;71(1)
    Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain.
    Background: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years.

    Methods: Data were analysed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for "index patients", defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS. Read More

    Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.
    J Cardiovasc Ultrasound 2016 Dec 28;24(4):324-328. Epub 2016 Dec 28.
    Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
    A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. Read More

    Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical (13)C-encoded internal standards.
    Clin Chim Acta 2017 Mar 13;466:178-184. Epub 2017 Jan 13.
    Dept. Medical Biochemistry, Leiden Institute of Chemistry (LIC), Leiden University, The Netherlands. Electronic address:
    Free sphingoid bases (lysosphingolipids) of primary storage sphingolipids are increased in tissues and plasma of several sphingolipidoses. As shown earlier by us, sphingoid bases can be accurately quantified using UPLC-ESI-MS/MS, particularly in combination with identical (13)C-encoded internal standards. The feasibility of simultaneous quantitation of sphingoid bases in plasma specimens spiked with a mixture of such standards is here described. Read More

    Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients (sifap1).
    Cerebrovasc Dis 2017 Jan 14;43(3-4):152-160. Epub 2017 Jan 14.
    Department of Neurology, University Medicine, Ernst Moritz Arndt University, Greifswald, Germany.
    Background: Although 20-30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing.

    Methods: In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18-55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI. Read More

    Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects.
    Orphanet J Rare Dis 2017 Jan 14;12(1). Epub 2017 Jan 14.
    Department of Clinical Pharmacology, Actelion Pharmaceuticals Ltd, Gewerbestrasse 16, 4123, Allschwil, Switzerland.
    Background: Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease and Fabry disease. The safety, tolerability, and pharmacokinetics of oral lucerastat were evaluated in two separate randomized, double-blind, placebo-controlled, single- and multiple-ascending dose studies (SAD and MAD, respectively) in healthy male subjects.

    Methods: In the SAD study, 31 subjects received placebo or a single oral dose of 100, 300, 500, or 1000 mg lucerastat. Read More

    The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
    Mol Genet Metab 2017 Jan 7. Epub 2017 Jan 7.
    Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for DNA Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address:
    Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Read More

    Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
    Int J Cardiol 2017 Apr 5;232:255-263. Epub 2017 Jan 5.
    Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Heath Care and Management Center, Taipei Veterans General Hospital, Taipei, Taiwan; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:
    Background: Fabry disease (FD) is a lysosomal storage disease in which glycosphingolipids (GB3) accumulate in organs of the human body, leading to idiopathic hypertrophic cardiomyopathy and target organ damage. Its pathophysiology is still poorly understood.

    Objectives: We aimed to generate patient-specific induced pluripotent stem cells (iPSC) from FD patients presenting cardiomyopathy to determine whether the model could recapitulate key features of the disease phenotype and to investigate the energy metabolism in Fabry disease. Read More

    General Anesthesia and Fabry Disease: A Case Report.
    A A Case Rep 2017 Jan 11. Epub 2017 Jan 11.
    From the *Department of Anesthesia and Intensive Care, Kantonsspital Schaffhausen, Schaffhausen, Switzerland; and †Clinic of Medicine/Endocrinology, UniversitätsSpital Zürich.
    Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature. Read More

    Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.
    Int J Mol Sci 2017 Jan 9;18(1). Epub 2017 Jan 9.
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei 112, Taiwan.
    We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57. Read More

    Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study.
    J Am Soc Echocardiogr 2017 Jan 6. Epub 2017 Jan 6.
    Department of Cardiovascular Sciences, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
    Background: Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies.

    Methods: Detailed echocardiographic examinations were performed in 45 patients with AFD. Read More

    Metabolic progression to clinical phenotype in classic Fabry disease.
    Ital J Pediatr 2017 Jan 3;43(1). Epub 2017 Jan 3.
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy.
    Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood. Read More

    PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL.
    Int J Technol Assess Health Care 2016 Jan 28;32(6):393-399. Epub 2016 Dec 28.
    The Hospital for Sick Children.
    Objectives: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II).

    Methods: Researchers and HTA experts who responded to an email invitation participated in a telephone interview. Read More

    The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
    Kidney Blood Press Res 2016 23;41(6):1016-1024. Epub 2016 Dec 23.
    Necmettin Erbakan University, Meram School of Medicine, Department of Internal Medicine, Division of Nephrology, Konya, Turkey.
    Background/aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Read More

    Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
    Kidney Int 2017 Feb 18;91(2):284-293. Epub 2016 Dec 18.
    Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany. Electronic address:
    Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Read More

    Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.
    PLoS One 2016 16;11(12):e0168346. Epub 2016 Dec 16.
    Department of Pathology, University of Washington, Seattle, United States America.
    Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive. Read More

    Neuropathic and Myopathic Pain.
    Semin Pediatr Neurol 2016 Aug 14;23(3):242-247. Epub 2016 Oct 14.
    Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL.
    The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. Read More

    Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.
    Int J Mol Sci 2016 Dec 13;17(12). Epub 2016 Dec 13.
    Institute of Pharmacology, National Yang-Ming University, Taipei 11221, Taiwan.
    The CRISPR/Cas9 Genome-editing system has revealed promising potential for generating gene mutation, deletion, and correction in human cells. Application of this powerful tool in Fabry disease (FD), however, still needs to be explored. Enzyme replacement therapy (ERT), a regular administration of recombinant human α Gal A (rhα-GLA), is a currently available and effective treatment to clear the accumulated Gb3 in FD patients. Read More

    Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
    J Am Soc Nephrol 2016 Dec 15. Epub 2016 Dec 15.
    Departments of Endocrinology and Metabolism and.
    Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence. Read More

    Clinicopathological Features of Cardiac Glycolipid Storage Disease in an Adult Pug.
    J Comp Pathol 2016 Dec 11. Epub 2016 Dec 11.
    Department of Biomedical Sciences, Cornell University College of Veterinary Medicine, 602 Tower Rd, Ithaca, NY, USA. Electronic address:
    A 12-year-old neutered male pug suffered cardiac arrest and died under general anaesthesia during diagnostic imaging for evaluation of exercise intolerance and respiratory crisis. Histopathological evaluation revealed two types of storage material, glycolipid and lipopigment, having differential distributions in multiple organs. The heart was most strikingly affected and other less affected tissues included the liver, brain, kidneys and skin. Read More

    [Glomerular lipidosis].
    G Ital Nefrol 2016 Malattie Metaboliche e Rene;33(S68)
    Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis. Read More

    Impaired Left Atrial Function in Fabry Disease: A Longitudinal Speckle-Tracking Echocardiography Study.
    J Am Soc Echocardiogr 2017 Feb 6;30(2):170-179.e2. Epub 2016 Dec 6.
    Centre de Recherche de l'Hôpital du Sacré-Coeur de Montréal, University of Montreal, Montreal, Quebec, Canada. Electronic address:
    Background: Fabry disease (FD) is characterized by the accumulation of sphingolipids in multiple organs, including the left atrium. It is uncertain if the left atrial (LA) reservoir, conduit, and contractile functions evaluated by speckle-tracking echocardiography are affected in Fabry cardiomyopathy and whether enzyme replacement therapy can improve LA function.

    Methods: In this retrospective cohort study, LA strain, strain rates, and phasic LA volumes were studied in 50 patients with FD and compared with values in 50 healthy control subjects. Read More

    Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant-SOD2 in Fabry Disease-specific Human Induced Pluripotent Stem Cell-differentiated Vascular Endothelial Cells.
    Cell Transplant 2016 12 6. Epub 2016 Dec 6.
    Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    Fabry disease (FD) is an X-linked inherited lysosomal storage disease caused by α-galactosidase A (GLA) deficiency. Progressive intracellular accumulation of globotriaosylceramide (Gb3) is considered to be pathogenically responsible for the phenotype variability of FD that causes cardiovascular dysfunction; however, molecular mechanisms underlying the impairment of FD-associated cardiovascular tissues remain unclear. In this study, we reprogrammed human induced pluripotent stem cells (hiPSC) from peripheral blood cells of patients with FD (FD-iPSCs); subsequently differentiated them into vascular endothelial-like cells (FD-ECs) expressing CD31, VE-cadherin, and vWF; and investigated their ability to form vascular tube-like structures. Read More

    Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
    J Am Coll Cardiol 2016 Dec;68(23):2554-2563
    Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Taiwan Clinical Trial Consortium in Fabry Disease, Taipei, Taiwan; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:
    Background: Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. Read More

    Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia.
    JAMA Dermatol 2016 Dec 7. Epub 2016 Dec 7.
    Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
    Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD). Read More

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