Abstract
Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alphagalactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.
Keywords: Fabry disease, diarrhoea, abdominal pain, gastrointestinal dysmotility, colitis.
Current Pharmaceutical Design
Title:Gastroenterological Complications of Anderson-Fabry Disease
Volume: 19 Issue: 33
Author(s): Piotr Buda, Janusz Ksiazyk and Anna Tylki-Szymaska
Affiliation:
Keywords: Fabry disease, diarrhoea, abdominal pain, gastrointestinal dysmotility, colitis.
Abstract: Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alphagalactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.
Export Options
About this article
Cite this article as:
Buda Piotr, Ksiazyk Janusz and Tylki-Szymaska Anna, Gastroenterological Complications of Anderson-Fabry Disease, Current Pharmaceutical Design 2013; 19 (33) . https://dx.doi.org/10.2174/13816128113199990347
DOI https://dx.doi.org/10.2174/13816128113199990347 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
Call for Papers in Thematic Issues
"Tuberculosis Prevention, Diagnosis and Drug Discovery"
The Nobel Prize-winning discoveries of Mycobacterium tuberculosis and streptomycin have enabled an appropriate diagnosis and an effective treatment of tuberculosis (TB). Since then, many newer diagnosis methods and drugs have been saving millions of lives. Despite advances in the past, TB is still a leading cause of infectious disease mortality ...read more
Current Pharmaceutical challenges in the treatment and diagnosis of neurological dysfunctions
Neurological dysfunctions (MND, ALS, MS, PD, AD, HD, ALS, Autism, OCD etc..) present significant challenges in both diagnosis and treatment, often necessitating innovative approaches and therapeutic interventions. This thematic issue aims to explore the current pharmaceutical landscape surrounding neurological disorders, shedding light on the challenges faced by researchers, clinicians, and ...read more
Emerging and re-emerging diseases
Faced with a possible endemic situation of COVID-19, the world has experienced two important phenomena, the emergence of new infectious diseases and/or the resurgence of previously eradicated infectious diseases. Furthermore, the geographic distribution of such diseases has also undergone changes. This context, in turn, may have a strong relationship with ...read more
Melanoma and Non-Melanoma Skin Cancer Treatment: Standard of Care and Recent Advances
In this thematic issue, we aim to provide a standard of care of the diagnosis and treatment of melanoma and non-melanoma skin cancer. The editor will invite authors from different countries who will write review articles of melanoma and non-melanoma skin cancers. The Diagnosis, Staging, Surgical Treatment, Non-Surgical Treatment all ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Antagonism by Bioactive Polyphenols Against Inflammation: A Systematic View
Inflammation & Allergy - Drug Targets (Discontinued) HCV-Related Rheumatic Manifestations and Therapeutic Strategies
Current Drug Targets Mechanisms of Neurodegeration in Type 2 Diabetes and the Neuroprotective Potential of Dipeptidyl Peptidase 4 Inhibitors
Current Medicinal Chemistry Novel Adjunctive Therapies for the Treatment of Tuberculosis
Current Molecular Medicine Quantitative Determination and Validation of Four Phenolic Acids in <i>Salvia Miltiorrhiza</i> Bunge using <sup>1</sup>H-NMR Spectroscopy
Current Pharmaceutical Analysis Recent Clinical Trials of Cladribine in Hematological Malignancies and Autoimmune Disorders
Reviews on Recent Clinical Trials Herpes Simplex Virus-Induced Ocular Diseases: Detrimental Interaction Between Virus and Host
Current Immunology Reviews (Discontinued) The Rationale for Comparative Studies of Accelerated Atherosclerosis in Rheumatic Diseases
Current Vascular Pharmacology The Evolving Therapy of Rheumatic Diseases, The Future is Now
Current Drug Targets - Immune, Endocrine & Metabolic Disorders Cell Cycle Arrest as a Therapeutic Target of Acute Kidney Injury
Current Protein & Peptide Science Neuropsychiatric Systemic Lupus Erythematosus
Current Neuropharmacology Anti-VEGF Treatment in Corneal Diseases
Current Drug Targets Role of Isoprenoid Compounds on Angiogenic Regulation: Opportunities and Challenges
Current Medicinal Chemistry FDG-PET/CT for Systemic Infections
Current Molecular Imaging (Discontinued) Adrenal Insufficiency Caused by Locally Applied Glucocorticoids-Myth or Fact?
Current Medicinal Chemistry Cocaine and Acute Vascular Diseases
Current Drug Abuse Reviews Review of Endocrine Manifestations of Antiphospholid Syndrome
Current Rheumatology Reviews Will Antirheumatic Treatment Improve Cardiovascular Outcomes in Patients with Rheumatoid Arthritis?
Current Pharmaceutical Design The Interplay between Cofilin and Phospho-Cofilin: Its Role in Maintaining Blood Brain Barrier Integrity
CNS & Neurological Disorders - Drug Targets Green Tea from the Far East to the Drug Store: Focus on the Beneficial Cardiovascular Effects
Current Pharmaceutical Design