1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1111/j.1651-2227.2006.tb02186.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1651-2227.2006.tb02186.x</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey Publisher An entity responsible for making the resource available Acta Paediatrica Date A point or period of time associated with an event in the lifecycle of the resource 2006 Subject The topic of the resource Child; Female; Humans; Male; Outcome Assessment (Health Care); Heterozygote; adolescent; Preschool; Q3 Literature Search; Age of Onset; DNA Mutational Analysis; alpha-Galactosidase/metabolism/therapeutic use; Fabry Disease/diagnosis/drug therapy/physiopathology; Isoenzymes/therapeutic use Creator An entity primarily responsible for making the resource Ramaswami U; Whybra C; Parini R; Pintos-Morell G; Mehta A; Sunder-Plassmann G; Widmer U; Beck M; FOS European Investigators Description An account of the resource BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death. AIM: Here, we present the clinical manifestations of Fabry disease in children enrolled in FOS--the Fabry Outcome Survey--a European database of the natural history of Fabry disease and the effects of enzyme replacement therapy with agalsidase alfa (Replagal). METHODS: Currently, there are 545 patients in FOS, from 11 European countries. We analysed the baseline demographic and clinical characteristics of 82 of these patients (40 boys, 42 girls) who were below 18 y of age. The median age at evaluation (defined as the median age at entry into FOS) was 12.5 and 13.2 y for boys and girls, respectively. RESULTS: The most frequent early clinical manifestations of Fabry disease were neurological (acroparaesthesiae, altered temperature sensitivity) and gastrointestinal symptoms (altered bowel habits and abdominal pain), which were documented in about 80% and 60% of patients, respectively, at the time of evaluation and subsequent entry into FOS. Tinnitus, vertigo, fatigue and angiokeratoma were present in over 40% of patients. Symptoms were noted in early childhood and occurred with similar frequency in boys and girls, although the onset of symptoms was 2-5 y later in girls than in boys. There was an approximately 3-y delay from onset of symptoms to diagnosis, and patients were frequently misdiagnosed. CONCLUSION: Although the life-threatening complications of Fabry disease, such as stroke and renal and heart failure, are not seen in children, the present analysis shows that other symptoms are common and may have an impact on quality of life. 2006 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1111/j.1651-2227.2006.tb02186.x" target="_blank" rel="noreferrer">10.1111/j.1651-2227.2006.tb02186.x</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2006 Acta Paediatrica Adolescent Age of Onset alpha-Galactosidase/metabolism/therapeutic use Backlog Beck M Child DNA Mutational Analysis Fabry Disease/diagnosis/drug therapy/physiopathology Female FOS European Investigators Heterozygote Humans Isoenzymes/therapeutic use Journal Article Male Mehta A Outcome Assessment (health Care) Parini R Pintos-Morell G Preschool Q3 Scoping Review Results Ramaswami U Sunder-Plassmann G Whybra C Widmer U