Search results for "Anderson-Fabry"
showing 10 items of 16 documents
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
2017
// Antonino Tuttolomondo 1 , Irene Simonetta 1 , Giovanni Duro 2 , Rosaria Pecoraro 1 , Salvatore Miceli 1 , Paolo Colomba 2 , Carmela Zizzo 2 , Antonia Nucera 3, 4 , Mario Daidone 1 , Tiziana Di Chiara 1 , Rosario Scaglione 1 , Vittoriano Della Corte 1 , Francesca Corpora 1 , Danai Vogiatzis 1 and Antonio Pinto 1 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy 2 CNR-IBIM: Institute of Biomedicine and Molecular Immunology “A. Monroy” Palermo, Palermo, Italy 3 Stroke Unit, Neurology, Saint Andrea Hospital, La Spezia, Italy 4 Department of Clinical Neurological Sciences, Western Univer…
Biomarkers in Anderson–Fabry Disease
2020
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This revi…
207 Diagnosis of Anderson-Fabry Disease in Childhood. What Should We Focus on?
2004
Background: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder which also affects female carriers and has an early onset of symptoms in childhood in both genders. Signs and symptoms are frequently misunderstood and often diagnosis is made approximately 10–20 years after their onset. This has been clearly demonstrated by Fabry outcome survey (FOS) a European database on the natural history of FD and the effects of enzyme replacement therapy with agalsidase alfa (Replagal). Methods: Demographic data on 82 children (40 boys and 42 girls) below 18 years of age, with a median age at FOS entry of 12.9 (0.7–17.9) were analysed Results: Most frequently reported symptoms (60–80%) …
Cardiac manifestations of Anderson-Fabry disease in heterozygous females.
2002
AbstractObjectivesWe sought to define the prevalence of cardiac involvement in female patients with Anderson–Fabry disease (AFD).BackgroundAnderson–Fabry disease is a rare inborn X-linked lysosomal storage disorder. Globotriaosylceramide (Gb3), the major substrate of the deficient α-galactosidase A enzyme, accumulates progressively in vulnerable cells, including the cardiovascular system. It has been believed that heterozygous females have less cardiac involvement than hemizygous males with AFD.MethodsWe performed two-dimensional echocardiographic examinations of female patients heterozygous for AFD.ResultsSince 1997, a total of 55 female patients (mean age, 39.6 years; range, 6.1 to 70.8 y…
Anderson-Fabry Disease: A Multiorgan Disease
2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2), including the skin, kidneys, nervous system, and heart, thereby triggering inflammation and fibrosis . These processes generally result in organ dysfunction, which is usually the first clinical evidence of FD. Patients with classic FD have various symptoms, eg, acroparesthesias, hypohidrosis, angiokeratomas, corneal opacities, cerebrovascular lesions, cardiac disorders, andrenal dysfunction.However, evolving knowledge about the natural course o…
VALUTAZIONE NON INVASIVA DELLA FUNZIONE ENDOTELIALE IN PAZIENTI AFFETTI DALLA MALATTIA DI ANDERSON-FABRY
2004
La malattia di Anderson-Fabry
2009
Neurological complications of Anderson-Fabry disease
2012
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seems to be less severely affected. The most prominent CNS manifestations consist of cerebrovascular events such as transient ischaemic attacks (TIAs) and (recurrent) strokes . For the most part, CNS complications in AFD have been attributed to cerebral vasculopathy, including anatomical abnormalities. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both …
Commentary: Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early Onset Parkinsonism
2021
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