Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients. At enrollment (median age 12 year), 77% of males and 51% of females reported symptoms. The median age of symptom onset was 6 year in males and 9 year in females. The most frequent symptom, neuropathic pain, was reported by 59% of males (median age 7 year) and 41% of females (median age 9 year). Gastrointestinal symptoms were reported by 18% of children (median age 5 year in males and 9.5 year in females). Males exhibited height and weight values below the US 50th percentile. Females had weight values above the US 50th percentile. A few patients had serious renal and cardiac manifestations, stage 2 or 3 chronic kidney disease (n = 3), arrhythmia (n = 9), and left ventricular hypertrophy (n = 3). Thus, many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life. Some children experience major complications during the pediatric years.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1203/PDR.0b013e318183f132 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Phenotypic Classification of Multisystem Inflammatory Syndrome in Children Using Latent Class Analysis.
JAMA Netw Open
January 2025
Coronavirus and Other Respiratory Viruses Division, National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia.
Importance: Multisystem inflammatory syndrome in children (MIS-C) is an uncommon but severe hyperinflammatory illness that occurs 2 to 6 weeks after SARS-CoV-2 infection. Presentation overlaps with other conditions, and risk factors for severity differ by patient. Characterizing patterns of MIS-C presentation can guide efforts to reduce misclassification, categorize phenotypes, and identify patients at risk for severe outcomes.
View Article and Find Full Text PDFNet Benefit of Early Anticoagulation for Stroke With Atrial Fibrillation: Post Hoc Analysis of the ELAN Randomized Clinical Trial.
JAMA Netw Open
January 2025
Department of Neurology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
Importance: The net clinical effect of early vs later direct oral anticoagulant (DOAC) initiation after atrial fibrillation-associated ischemic stroke is unclear.
Objective: To investigate whether early DOAC treatment is associated with a net clinical benefit (NCB).
Design, Setting, And Participants: This was a post hoc analysis of the Early Versus Late Initiation of Direct Oral Anticoagulants in Post-Ischaemic Stroke Patients With Atrial Fibrillation (ELAN) open-label randomized clinical trial conducted across 103 sites in 15 countries in Europe, the Middle East, and Asia between November 6, 2017, and September 12, 2022, with a 90-day follow-up.
Nelonemdaz and Patients With Acute Ischemic Stroke and Mechanical Reperfusion: The RODIN Randomized Clinical Trial.
JAMA Netw Open
January 2025
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Importance: Nelonemdaz selectively antagonizes the 2B subunit of the N-methyl-d-aspartate glutamate receptor and scavenges free radical species.
Objective: To evaluate whether nelonemdaz enhances the clinical outcomes of patients with acute ischemic stroke undergoing emergent reperfusion therapy.
Design, Setting, And Participants: This multicenter double-blind placebo-controlled randomized phase 3 trial (December 25, 2021, to June 30, 2023, in South Korea) recruited patients with acute ischemic stroke who met the following criteria: National Institutes of Health Stroke Scale score greater than or equal to 8, Alberta Stroke Program Early Computed Tomography score greater than or equal to 4, and endovascular thrombectomy within 12 hours after stroke onset.
Understanding of Clinical Trials Among Patients With Cancer and Their Relatives.
JAMA Netw Open
January 2025
Ankara University Faculty of Medicine, Department of Medical Oncology, Ankara, Turkey.
Importance: Clinical trials are vital for advancing cancer treatments and improving patient outcomes. Understanding the factors that influence participants' decision-making is critical for enhancing trial recruitment.
Objective: To evaluate the attitudes of patients with cancer and their relatives toward clinical trial participation, identifying key barriers and motivators that affect their willingness to engage in such trials.
Severe Deficiency of Vitamin D and Anthracycline-Taxane Regimen are associated with Cachexia Following Breast Cancer Chemotherapy: A Single Center Assessment Using Two Consensus-Based Criteria.
Asian Pac J Cancer Prev
January 2025
Division of Hematology and Medical Oncology, Department of Internal Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito General Hospital Yogyakarta, Indonesia.
Background: Cancer cachexia in breast cancer (BC) patients is not commonly reported, particularly in Indonesia. This study assessed the prevalence of cachexia in local patients with BC receiving chemotherapy, and the associated factors.
Methods: This cross-sectional study included 160 BC patients who started chemotherapy between July 2018 and June 2022.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!