Search results for "Fabry disease"
showing 10 items of 120 documents
Epidemiological study of Italian patients with Fabry disease.
2007
Pharmacokinetics of agalsidase alfa in male and female patients with Fabry disease
2007
Safety of agalsidase alfa in patients with Fabry disease under 7 years
2011
Aim: To evaluate the safety and explore the efficacy of enzyme replacement therapy (ERT) for Fabry disease with agalsidase alfa in young children enrolled in the Fabry Outcome Survey (FOS). Methods: This retrospective chart review identified eight children (mean age = 5.0 ± 1.6 [mean ± SD]) in FOS who began treatment with agalsidase alfa (0.2 mg/kg, i.v., every other week) when <7 years old. Vital signs and adverse events were monitored throughout the study period. Glomerular filtration rate (GFR) was estimated, and left ventricular mass indexed to height2.7 (LVMi) was assessed with echocardiography. Patients received 1.2–6.7 years of treatment (mean = 4.2 years). Results: Infusion react…
302 Hearing Abnormalities in Children with Fabry Disease: Data from FOS - the Fabry Outcome Survey
2005
Background: Fabry disease is an X-linked glycosphingolipid storage disorder due to a deficiency of the enzyme alpha-galactosidase A. Accumulation of substrate results in a progressive and life-threatening multisystemic disease. Early clinical manifestations include pain and gastrointestinal symptoms. Sensorineural hearing loss and vertigo are well-recognized features of the disorder, occurring in approximately 50% of adults with Fabry disease. We have investigated the audiological symptoms of Fabry disease in children using pure-tone and impedance audiometry. Methods: Symptom history was obtained using a standardized questionnaire from FOS − the Fabry Outcome Survey. Hearing was measured us…
Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation
2013
Enzyme replacement therapy in Fabry disease: Comparison of agalsidase alfa and agalsidase beta
2008
The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy
2010
The cardiovascular involvement in Fabry disease is progressive, and accounts for one of the major reasons for abbreviated life expectancy and increased morbidity. The majority of patients develop signs and symptoms, related to heart failure and arrhythmias. Hypertrophic cardiomyopathy, in later stages combined with myocardial fibrosis, is one of the leading features. Both genders are affected, and females develop severe cardiac Fabry disease approximately 10–15 years later in life than male patients. Diastolic dysfunction and reduced longitudinal mid-wall related systolic function are the mechanical consequences of the myocardial and epithelial changes related to accumulation of the storage…
Symptomatic and Ancillary Therapy
2010
Although enzyme replacement therapy has had a considerable impact on the management of patients with Fabry disease, it is essential that attention is also given to supportive therapy. In this chapter a general overview about ancillary therapy is given. The great variability of clinical symptoms faced by patients with Fabry disease need the involvement from many different specialists, as well as a wide range of concomitant treatments. Coordinating a good multidisciplinary approach for each patient and ensuring that treatment is made as convenient as possible may offer a more positive impact on the quality of life of those patients affected by Fabry disease.
A study of plasma and urinary sediment globotriaosylceramide levels in females with Fabry disease
2007
Pathophysiologische Aspekte hirnstruktureller Veränderungen bei Morbus Fabry: Literaturübersicht
2006
Fabry Disease (FD) is a rare X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A (alpha-GAL) enzyme activity. Neutral glycosphingolipides (esp. Gb3) accumulate in lysosomes of several tissues, particularly in vascular endothelium and smooth muscle cells. Cerebral manifestations that might be mainly due to progressive cerebrovascular dysfunction, are one major and often life-threatening burden of the disease. We reviewed the present literature concerning brain structural alterations in FD and discuss the possibly relevant underlying pathophysiological aspects of these disturbances. Cerebrovascular events (TIA, stroke) occur in FD at a rather early age. In female…