5,168 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

Parapelvic Cysts: An Imaging Marker of Kidney Disease Potentially Leading to the Diagnosis of Treatable Rare Genetic Disorders? A Narrative Review of the Literature.

J Nephrol 2022 Jun 24. Epub 2022 Jun 24.

Department of Public Health, Chair of Nephrology "Federico II", University of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

Simple renal cysts are a common finding during abdominal imaging assessment. The incidence increases with age and it is higher in male gender. Parapelvic cysts are a subset of simple cysts that arise within the renal parenchyma, adjacent to the renal sinus, characterized by being generally single, larger, and incompletely surrounded by renal parenchyma. Read More

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Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

J Pers Med 2022 Jun 1;12(6). Epub 2022 Jun 1.

Department of Paediatrics, Faculty of Medicine Comenius University in Bratislava and National Institute of Children's Diseases in Bratislava, 83340 Bratislava, Slovakia.

Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1. Read More

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Unexplained Left Ventricular Hypertrophy with Symptomatic High-Grade Atrioventricular Block in Elderly Patients: A Case Report.

J Clin Med 2022 Jun 19;11(12). Epub 2022 Jun 19.

Department of Internal Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.

Left ventricular hypertrophy (LVH) is common among older adults. Amidst all causes, Fabry disease (FD) should be considered when LVH occurs with family history, specific clinical manifestations, or cardiac alert signs. Here, we report a case of a 76-year-old male who presented late onset concentric LVH with symptomatic high-grade atrioventricular (AV) block. Read More

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Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis.

Neurol Int 2022 Jun 1;14(2):497-505. Epub 2022 Jun 1.

Department of Osteopathic Neuromuscular Medicine, Larkin Community Hospital Palm Springs Campus, Hialeah, FL 33012, USA.

Background: Fabry disease (FD) is the second most common lysosomal storage disorder. This disorder affects multiple systems that include the cardiac, renal, and nervous system. The pulvinar sign (PS) is a relatively common sign seen in patients with FD. Read More

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Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

Orphanet J Rare Dis 2022 06 20;17(1):238. Epub 2022 Jun 20.

Department of Genetics, UFRGS, Medical Genetics Service, HCPA, Porto Alegre, Brazil.

Background: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Read More

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Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Orphanet J Rare Dis 2022 06 20;17(1):237. Epub 2022 Jun 20.

Renal Division, Department of Internal Medicine, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.

Background: Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intronic mutations which have been linked to classic and cardiac variants of FD.

Methods And Results: We report a novel hemizygous deep intronic GLA mutation (IVS4+1326C>T) in a 33-year-old Chinese man with a mild α-GalA deficiency phenotype involving isolated proteinuria and predominant globotriaosylceramide deposits in podocytes. Read More

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Front Pediatr 2022 1;10:908657. Epub 2022 Jun 1.

Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, Targu Mures, Romania.

Inherited renal diseases represent 20% of the causes of end-stage renal diseases. Fabry disease, an X-linked lysosomal storage disorder, results from α-galactosidase A deficient or absent activity followed by globotriaosylceramide (Gb3) accumulation and multiorgan involvement. In Fabry disease, kidney involvement starts early, during intrauterine life by the Gb3 deposition. Read More

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X-Linked Kidney Disorders in Women.

Semin Nephrol 2022 Mar;42(2):114-121

Division of Pediatric Nephrology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN. Electronic address:

A number of genes that cause inherited kidney disorders reside on the X chromosome. Given that males have only a single active X chromosome, these disorders clinically manifest primarily in men and boys. However, phenotypes in female carriers of X-linked kidney conditions are becoming more and more recognized. Read More

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Frequency Doubling Technology Visual Field Loss in Fabry Subjects Related to Retinal Ganglion Cell Function as Explored by ERG and OSOME.

Clin Ophthalmol 2022 9;16:1893-1908. Epub 2022 Jun 9.

École d'optométrie de l'Université de Montréal, Montréal, Canada.

Purpose: This study aims to evaluate potential causes of FDT visual field loss in a selected group of Fabry subjects.

Patients And Methods: This is a pilot observational study. Subjects were assessed during 2 visits. Read More

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Identification of dual active sites in GANA-1 protein: an ortholog of the human α-GAL a and α-NAGA enzymes.

J Biomol Struct Dyn 2022 Jun 11:1-16. Epub 2022 Jun 11.

School of Science, Monash University Malaysia, Bandar Sunway, Selangor Darul Ehsan, Malaysia.

Fabry disease (FD) is caused by a defective α-galactosidase A (α-GAL A) enzyme responsible for breaking down globotriaosylceramide (Gb). To develop affordable therapeutics, more effort is needed to obtain insights into the underlying mechanism of FD and understanding human α-GAL A structure and function in related animal models. We adopted as a model to elucidate the sequence and 3D structure of its GANA-1 enzyme and compared it to human α-GAL A. Read More

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Dysregulation of Immune Response Mediators and Pain-Related Ion Channels Is Associated with Pain-like Behavior in the GLA KO Mouse Model of Fabry Disease.

Cells 2022 05 24;11(11). Epub 2022 May 24.

Department of Neurology, University of Würzburg, 97080 Würzburg, Germany.

Fabry disease (FD) is a rare life-threatening disorder caused by deficiency of the alpha-galactosidase A (GLA) enzyme with a characteristic pain phenotype. Impaired GLA production or function leads to the accumulation of the cell membrane compound globotriaosylceramide (Gb3) in the neurons of the dorsal root ganglia (DRG) of FD patients. Applying immunohistochemistry (IHC) and quantitative real-time polymerase chain reaction (qRT PCR) analysis on DRG tissue of the GLA knockout (KO) mouse model of FD, we address the question of how Gb3 accumulation may contribute to FD pain and focus on the immune system and pain-associated ion channel gene expression. Read More

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Late-onset Fabry disease: the cardiac sequela.

BMJ Case Rep 2022 Jun 9;15(6). Epub 2022 Jun 9.

Department of Cardiology, Albany Medical Center, Albany, New York, USA.

We describe a patient with Fabry disease (FD) who initially presented with atrial fibrillation without left ventricular hypertrophy (LVH) 14 years before being correctly diagnosed with FD. In the interim, he survived a myocardial infarction complicated by ventricular fibrillation, and his severe LVH was misdiagnosed as sarcomeric hypertrophic cardiomyopathy. In the following 4 years, he developed proteinuric kidney disease, neuropathy, sensorineural hearing loss and gastrointestinal symptoms. Read More

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Fabry Disease: current & novel therapeutic strategies. A narrative review.

Curr Neuropharmacol 2022 Jun 1. Epub 2022 Jun 1.

Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Background: Fabry disease (FD) is an inherited lysosomal storage disorder, leading to multisystemic manifestations and causing significant morbidity and mortality.

Objective: The aim of this narrative review is to present the current and novel therapeutic strategies in FD, including symptomatic and specific treatment options.

Methods: A systematic literature search was conducted to identify relevant studies, including completed and ongoing randomized-controlled clinical trials (RCTs), prospective or retrospective cohort studies, case series and case reports that provided clinical data regarding FD treatment. Read More

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A retrospective investigation to establish new screening approach for the detection of patients at high risk of Fabry disease in male left ventricular hypertrophy patients.

J Cardiol 2022 May 25. Epub 2022 May 25.

Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Nankoku, Japan.

Background: The prevalence of Fabry disease (FD) in male patients with left ventricular hypertrophy (LVH) is about 1%. From the perspective of performing more efficient screening with measurement of α-galactosidase (α-Gal) activity, it is important to raise the pretest probability.

Methods: We retrospectively investigated the prevalence of FD in 701 male patients with LVH who already had been screened by measurement of α-Gal activity in eight hospitals. Read More

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CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease.

Int J Mol Sci 2022 May 11;23(10). Epub 2022 May 11.

Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Bunsen-Kirchhoff-Str. 11, 44139 Dortmund, Germany.

Vibrational spectroscopy can detect characteristic biomolecular signatures and thus has the potential to support diagnostics. Fabry disease (FD) is a lipid disorder disease that leads to accumulations of globotriaosylceramide in different organs, including the heart, which is particularly critical for the patient's prognosis. Effective treatment options are available if initiated at early disease stages, but many patients are late- or under-diagnosed. Read More

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Fabry disease with acute myocardial infarction, left ventricular thrombosis, and pericardial effusion: A case report.

Medicine (Baltimore) 2022 May 27;101(21):e29427. Epub 2022 May 27.

The Center of Cardiovascular Diseases, The First Hospital of Jilin University, Changchun, China.

Rationale: Fabry disease (FD) is a rare, X-linked lysosomal deposition disease characterized by multi-system symptoms. The accumulation of globotriaosylceramide in various organs, such as the kidneys and heart, as well as the nervous system, has been speculated to be the mechanism involved in tissue damage, including vascular impairment with thrombotic events.

Patient Concerns: Here, we describe a 72-year-old male patient diagnosed with FD, who first presented with acute myocardial infarction, left ventricular thrombosis, and pericardial effusion, accompanied by cardiac hypertrophy. Read More

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Aortic dissection four months after SARS-CoV-2 infection in patient with Fabry disease which targeted treatment has been stopped two months earlier.

Kardiol Pol 2022 May 25. Epub 2022 May 25.

Department of Coronary Artery Disease and Cardiac Rehabilitation, National Institute of Cardiology, Warszawa, Poland.

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Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis.

J Cardiovasc Magn Reson 2022 May 23;24(1):31. Epub 2022 May 23.

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

Background: T1 mapping is an established cardiovascular magnetic resonance (CMR) technique that can characterize myocardial tissue. We aimed to determine the weighted mean native T1 values of Anderson-Fabry disease (AFD) patients and the standardized mean differences (SMD) as compared to healthy control subjects.

Methods: A comprehensive literature search of the PubMed, Scopus and Web of Science databases was conducted according to the PRISMA statement to retrieve original studies reporting myocardial native T1 values in AFD patients and healthy controls. Read More

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Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook.

Curr Mol Med 2022 ;22(4):300-311

Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

Monogenic cerebral small vessel diseases are a topic of growing interest, as several genes responsible have been recently described, and new sequencing techniques such as Next-generation sequencing are available. Brain imaging is significant for the detection of these diseases. Since it is often performed at an initial stage, an MRI is a key to selecting patients for genetic testing and for interpreting nextgeneration sequencing reports. Read More

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The correlation of small fiber neuropathy with pain intensity and age in patients with Fabry's disease: A cross sectional study within a large Taiwanese family.

Biomed J 2022 Apr 3;45(2):406-413. Epub 2021 May 3.

Departments of Neurology, Chang Gung Memorial Hospital at Taipei, Taipei, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:

Background: The relationships among small fiber neuropathy, age, sex and pain intensity in the context of Fabry's disease remain unclear. We aim to study the correlations of small fiber neuropathy, age, sex and pain intensity in Fabry patients.

Methods: We evaluated C-fiber function by recording the withdrawal latencies to painful heat stimulus (WLPHS) when each subject's right hand was immersed in a 50 °C hot water bath and correlated this parameter with the patient's perceived pain intensity and quality of life assessed by the short-form McGill Pain Questionnaire (SF-MPQ) in a large Taiwanese Fabry family and normal controls. Read More

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Cerebral vasoreactivity in a Fabry's Disease patient.

Curr Med Imaging 2022 May 18. Epub 2022 May 18.

Pediatric Unit, Annunziata Hospital of Cosenza, Cosenza, Italy.

Background: Fabry disease (FD) is a rare X-linked multisystem lysosomal storage disease caused by partial or total deficiency of a-galactosidase A (GLA). A progressive involvement of the kidneys, heart, and brain arteries was reported. Using the transcranial color-coded duplex Doppler (TCCD), we report the case of Fabry's disease (FD) patients with a reduction in the cerebrovascular reactivity of the basilar artery (BA). Read More

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The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.

Orphanet J Rare Dis 2022 05 16;17(1):199. Epub 2022 May 16.

Federal State Autonomous Institution, "National Medical Research Center for Children's Health" of the Ministry of Health of the Russian Federation, Moscow, Russia.

Background: There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from high-risk groups, including adult patients with hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH). These studies show diverse detection frequencies (0-12%) depending on the methodology. Read More

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Reduced hip bone mineral density is associated with high levels of calciprotein particles in patients with Fabry disease.

Osteoporos Int 2022 May 16. Epub 2022 May 16.

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

Calciprotein particles (CPP) are nanoscale mineralo-protein aggregates that help stabilize excess mineral in the circulation. We examined the relationship between CPP and bone mineral density in Fabry disease patients. We found an inverse correlation with total hip and femoral neck density, but none with lumbar spine. Read More

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Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.

Klin Lab Diagn 2022 Apr;67(4):204-206

Research Institute of Medical Genetics Tomsk National Research Medical Center of the Russian Academy of Sciences.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric or fluorigenic substrate. The aim of the study: to assess the possibility of introducing the compared methods into the practice of neonatal screening. Read More

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Mulberry body in a patient with Fabry disease.

QJM 2022 May 14. Epub 2022 May 14.

Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan.

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Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.

Int J Mol Sci 2022 May 4;23(9). Epub 2022 May 4.

Department Biology, University of Napoli « Federico II », Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.

Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations can benefit from oral therapy with a pharmacological chaperone. The drug requires a very precise regimen because it is a reversible inhibitor of alpha-galactosidase. Read More

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p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease.

Anatol J Cardiol 2022 05;26(5):411-413

Department of Cardiology, İstanbul University-Cerrahpaşa, Institute of Cardiology, İstanbul, Turkey.

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Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.

Front Cardiovasc Med 2022 25;9:838200. Epub 2022 Apr 25.

Heart Department, University Hospital San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.

Introduction: Aim of this study was to evaluate, in a metropolitan area not already explored, the prevalence of Anderson-Fabry disease, by genetic screening, in patients with echocardiographic evidence of left ventricular hypertrophy (LVH) of unknown origin and "clinical red flags".

Methods: From August 2016 to October 2017, all consecutive patients referring to our echo-lab for daily hospital practices with echocardiographic evidence of LVH of unknown origin in association with history of at least one of the classical signs and symptoms related to Fabry disease (FD) (neuropathic pain, anhidrosis/hypohidrosis, angiokeratomas, gastrointestinal problems, chronic kidney disease, or cerebrovascular complications) were considered eligible for the FD genetic screening program. Through dried blood spot testing, α-Galactosidase A (α-Gal A) activity and analysis of the gene were performed. Read More

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Early renal failure in childhood in a male with Fabry disease.

BMJ Case Rep 2022 May 10;15(5). Epub 2022 May 10.

Lysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK

Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Read More

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