Abstract
Although clinical evidence of major organ damage is typical of adulthood, many of the signs and symptoms of Anderson Fabry Disease (AFD) occur frequently in childhood. The clinical phenotype of AFD in pediatric patients has been described in several studies which show a higher incidence and an earlier onset of symptoms in male patients than in females. These include neurological manifestations (acroparaesthesias, chronic neuropathic pain, hypo-anhidrosis, tinnitus, hearing, loss), gastrointestinal (GI) symptoms (abdominal pain and diarrhea), angiokeratomas, ocular abnormalities (cornea verticillata, tortuous retinal vessels and subcapsular cataracts). Such manifestations may impair quality of life and, because of their unspecific nature, rarely lead to an early diagnosis. In addition, signs of major organ damage (microalbuminuria or proteinuria, urinary hyperfiltration, impaired heart rate variability, left ventricular hypertrophy, stroke) are encountered in children with AFD. Clinical trials of enzyme replacement therapy (ERT) with agalsidase alfa and agalsidase beta have been conducted in children, with clinical and pharmacodinamc effects proved by both enzyme formulations, whereas differences in safety profile and administration were found. Although several studies suggest that ERT should be started before irreversible damage in critical organs have occurred, the issue of when to initiate it has not yet been resolved. More controlled trials must be done in order to demonstrate that an early start of ERT could prevent adult complications and to assess the optimal timing of treatment in children with AFD. This review aims to provide an update of the current understanding for a better approach of pediatric AFD.
Keywords: Anderson-fabry disease, -galactosidase a, children, enzyme replacement therapy.
Current Pharmaceutical Design
Title:Anderson-Fabry Disease in Children
Volume: 19 Issue: 33
Author(s): Simona Sestito, Ferdinando Ceravolo and Daniela Concolino
Affiliation:
Keywords: Anderson-fabry disease, -galactosidase a, children, enzyme replacement therapy.
Abstract: Although clinical evidence of major organ damage is typical of adulthood, many of the signs and symptoms of Anderson Fabry Disease (AFD) occur frequently in childhood. The clinical phenotype of AFD in pediatric patients has been described in several studies which show a higher incidence and an earlier onset of symptoms in male patients than in females. These include neurological manifestations (acroparaesthesias, chronic neuropathic pain, hypo-anhidrosis, tinnitus, hearing, loss), gastrointestinal (GI) symptoms (abdominal pain and diarrhea), angiokeratomas, ocular abnormalities (cornea verticillata, tortuous retinal vessels and subcapsular cataracts). Such manifestations may impair quality of life and, because of their unspecific nature, rarely lead to an early diagnosis. In addition, signs of major organ damage (microalbuminuria or proteinuria, urinary hyperfiltration, impaired heart rate variability, left ventricular hypertrophy, stroke) are encountered in children with AFD. Clinical trials of enzyme replacement therapy (ERT) with agalsidase alfa and agalsidase beta have been conducted in children, with clinical and pharmacodinamc effects proved by both enzyme formulations, whereas differences in safety profile and administration were found. Although several studies suggest that ERT should be started before irreversible damage in critical organs have occurred, the issue of when to initiate it has not yet been resolved. More controlled trials must be done in order to demonstrate that an early start of ERT could prevent adult complications and to assess the optimal timing of treatment in children with AFD. This review aims to provide an update of the current understanding for a better approach of pediatric AFD.
Export Options
About this article
Cite this article as:
Sestito Simona, Ceravolo Ferdinando and Concolino Daniela, Anderson-Fabry Disease in Children, Current Pharmaceutical Design 2013; 19 (33) . https://dx.doi.org/10.2174/13816128113199990345
DOI https://dx.doi.org/10.2174/13816128113199990345 |
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
?Revolutionizing Cancer Treatment: Nano-Therapeutics Targeting Tumor Microenvironment?
This thematic issue explores the forefront of cancer treatment, centering on the groundbreaking potential of nano-therapeutics meticulously designed to target the tumor microenvironment. At its core, the issue aims to unravel the latest advancements in nanotechnology, showcasing innovative materials, formulations, and delivery systems that hold promise for redefining cancer therapeutics. ...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
- 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
-
Regulation of HIV-1 Transcription by Protein Phosphatase 1
Current HIV Research The Pattern of Calculated Inflammation Ratios as Prognostic Values in Patients with Colorectal Cancer
Combinatorial Chemistry & High Throughput Screening The Future of Collateral Artery Research
Current Cardiology Reviews Antiviral Drug Discovery Targeting to Viral Proteases
Current Pharmaceutical Design Cardiovascular Risk Factors, Metabolic Complications, & the Natural Course of CKD in Children
Current Hypertension Reviews Atrial Fibrillation in Heart Failure: An Innocent Bystander?
Current Cardiology Reviews Editorial [Hot Topic: Modifying Cardiovascular Risk Factors: Epidemiology and Characteristics of Hypertension-Related Disorders (Executive Guest Editor: Aurelio Leone)]
Current Pharmaceutical Design New Insights into the Role of FGF-23 and Klotho in Cardiovascular Disease in Chronic Kidney Disease Patients
Current Vascular Pharmacology Mitochondrial Biogenesis: Regulation By Endogenous Gases During Inflammation and Organ Stress
Current Pharmaceutical Design Irbesartan: Second Generation of ARB as Metabosartan
Current Hypertension Reviews A Decrease in the Cellular Phosphodiester to Phosphomonoester Lipid Ratio is Characteristic of HIV-1 Infection
Current HIV Research Congenital Hypothyroidism: Facts, Facets & Therapy
Current Pharmaceutical Design Polyamines and Related Nitrogen Compounds in the Chemotherapy of Neglected Diseases Caused by Kinetoplastids
Current Topics in Medicinal Chemistry Clinical Applications of Creatine Supplementation on Paediatrics
Current Pharmaceutical Biotechnology Epigenetic and Disease Targets by Polyphenols
Current Pharmaceutical Design Risk Stratification for Sudden Cardiac Death: Current Approaches and Predictive Value
Current Cardiology Reviews From Bone Marrow to Cardiac Atrial Appendage Stem Cells for Cardiac Repair: A Review
Current Medicinal Chemistry The HGF/c-Met Receptor System Under Pathological Conditions
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Thrombolytic Treatment of Cardiac Myxoma-Induced Ischemic Stroke: A Review
Current Drug Safety Alcohol Drinking, Apolipoprotein Polymorphisms and the Risk of Cardiovascular Diseases
Current Neurovascular Research