Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
Journal of Internal Medicine, April 25, 2013
Weidemann F et al. - The long-term effects of enzyme-replacement therapy (ERT) in fabry disease are unknown. Thus, the aim of this study was to determine whether ERT in patients with advanced fabry disease affects progression towards ‘hard’ clinical endpoints in comparison with the natural course of the disease. Despite ERT, clinically meaningful events including sudden cardiac death continue to develop in patients with advanced fabry disease.
Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry
The Journal of Pediatrics, March 11, 2013
Scott CR et al. – MS/MS for the simultaneous assay of multiple lysosomal enzymes can be successfully introduced into a routine newborn screening laboratory. The technology has a positive predictive value equal to, or better, than methods currently used for the detection of nonlysosomal disorders. Using newborn blood spots, the combined prevalence of fabry, Pompe, and MPS–I is estimated at 1/7500 newborns based on low–enzyme activity and confirmation by mutation analysis. Methods Enzyme ...
Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine
Clinical Journal of the American Society of Nephrology, April 11, 2013
Maruyama H et al. - The purpose of this study was to examine the usefulness of globotriaosylsphingosine as a secondary screening target for fabry disease. Plasma globotriaosylsphingosine is a promising secondary screening target that was effective for selecting candidates for genetic counseling and testing and for uncovering unrecognized fabry disease cases.
Pulmonary involvement in Fabry disease: Overview and perspectives
European Journal of Internal Medicine , June 13, 2013
Franzen D et al. - fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials.
Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease
European Heart Journal, April 12, 2013
Krämer J et al. - This cross-sectional study aimed to analyse myocardial deformation in patients with fabry disease (FD) in order to evaluate speckle tracking as a method for non-invasive determination of myocardial fibrosis. Late enhancement is associated with lower longitudinal strain in the fibrotic wall segments. Speckle tracking can be used as a tool for the indirect evaluation of LE in FD.
In 101 consecutive fabry patients (39.8 ± 12.9 years; 42 ...
Genzyme Convenes 13th European Fabry Disease Roundtable
Genzyme, April 19, 2013
Genzyme, a Sanofi company, announced that the 13th European fabry Disease Roundtable will take place April 19 and 20 in Madrid, Spain. The Roundtable is a scientific meeting sponsored by Genzyme that brings together more than 200 participants from around the world, including physicians, academics, researchers and patient organization representatives to discuss current clinical care for patients with fabry disease and the future direction of disease management. This year’s Roundtable is chaired ...
Two-Dimensional Speckle Tracking Echocardiography for Early Detection of Myocardial Damage in Young Patients with Fabry Disease
Echocardiography, April 22, 2013
Saccheri MC et al. - fabry disease (FD) is characterized by left ventricular hypertrophy (LVH). Conventional echocardiography is not sensitive enough to perform the preclinical diagnosis To assess whether longitudinal myocardial strain of the left ventricle (LV), using speckle tracking, is useful to detect early myocardial involvement in FD. These findings show that the presence of at least one strain value ≥-15% demonstrates subclinical myocardial dysfunction in patients with ...
Early cardiovascular remodelling in Fabry disease
Journal of Inherited Metabolic Disease, May 10, 2013
Costanzo L et al. - fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal alpha-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left ventricular hypertrophy (LVH). FD progressively involves cardiac, macrovascular and microvascular systems ...
Medullary sponge kidney: state of the art
Nephrology Dialysis Transplantation, May 22, 2013
Fabris A et al. - Medullary sponge kidney (MSK) is a kidney malformation that generally manifests with nephrocalcinosis and recurrent renal stones; other signs may be renal acidification and concentration defects, and pre-calyceal duct ectasias. MSK is generally considered a sporadic disorder, but an apparently autosomal dominant inheritance has also been observed. The authors surmise that a defective distal acidification has a central role in MSK and is followed by a chain of ...
p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
European Journal of Neurology, June 10, 2013
Nakamura K et al. - The study aims to determine the importance of galactosidase A (GLA) mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. GLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese males.