Journal ArticleDOI
Urinary Total Globotriaosylceramide and Isoforms to Identify Women With Fabry Disease: A Diagnostic Test Study
Eduard Paschke,Guenter Fauler,Heimo Winkler,Axel Schlagenhauf,Barbara Plecko,Wolfgang Erwa,Frank Breunig,Wolfgang Urban,Bojan Vujkovac,Gere Sunder-Plassmann,Peter Kotanko +10 more
Reads0
Chats0
TLDR
Total urinary Gb3 and Gb2 isoforms can be used for the diagnosis of Fabry disease in women, independent of the presence or absence of CKD.About:
This article is published in American Journal of Kidney Diseases.The article was published on 2011-05-01. It has received 19 citations till now. The article focuses on the topics: Fabry disease & Globotriaosylceramide.read more
Citations
More filters
Journal ArticleDOI
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice
Wim Terryn,Pierre Cochat,Roseline Froissart,Alberto Ortiz,Yves Pirson,Bruce Poppe,Andreas L. Serra,Wim Van Biesen,Raymond Vanholder,Christoph Wanner +9 more
TL;DR: It is unclear whether enzyme replacement therapy (ERT) prevents deterioration of kidney function, and the low likelihood that a sufficiently powered randomized controlled trial on this topic will be performed, data of all patients with FD should be collected in a central registry.
Journal ArticleDOI
Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis
Linda van der Tol,Einar Svarstad,Einar Svarstad,Alberto Ortiz,Camilla Tøndel,João Paulo Oliveira,Liffert Vogt,Stephen Waldek,Derralynn Hughes,Robin H. Lachmann,Wim Terryn,Carla E. M. Hollak,Sandrine Florquin,Marius A. van den Bergh Weerman,Christoph Wanner,Michael West,Marieke Biegstraaten,Gabor E. Linthorst +17 more
TL;DR: In adults with chronic kidney disease, an α-galactosidase A gene variant and an uncertain diagnosis ofFD, a kidney biopsy with EM analysis should be performed to confirm or reject the diagnosis of FD nephropathy.
Journal ArticleDOI
Fabry Nephropathy: An Evidence-Based Narrative Review.
María Dolores del Pino y Pino,Amado Andrés,Ana Ávila Bernabéu,Joaquín De Juan-Rivera,Elvira Fernández,Juan De Dios García Díaz,Domingo Hernández,José Luño,Isabel Martinez Fernandez,Jose Paniagua,Manuel Posada de la Paz,José Carlos Rodríguez-Pérez,Rafael Santamaria,Roser Torra,Joan Torras Ambros,Pedro Vidau,Josep Vicent Torregrosa +16 more
TL;DR: An updated overview on Fabry nephropathy is provided, with a focus on the most relevant aspects of its epidemiology, diagnosis, pathophysiology, and treatment options.
Journal ArticleDOI
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy.
Gerald Mundigler,Martina Gaggl,Georg Heinze,Senta Graf,Manfred Zehetgruber,Natalija Lajic,Till Voigtländer,Christine Mannhalter,Raute Sunder-Plassmann,Eduard Paschke,Günter Fauler,Gere Sunder-Plassmann +11 more
TL;DR: The endocardial binary appearance is associated with the degree of septalhypertrophy but cannot adequately distinguish between patients with Fabry disease and patients with other causes of left ventricular hypertrophy.
Journal ArticleDOI
Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
Britt A. Johnson,Hermann Mascher,Daniel Mascher,Elisa Legnini,Christina Hung,Angela Dajnoki,Yin-Hsiu Chien,László Maródi,Wuh-Liang Hwu,Olaf Bodamer +9 more
TL;DR: The HPLC-MS/MS method is robust and yields reproducible results in DBS in patients with FD, however, concentrations of lyso-Gb3 were below the limit of quantitation in most newborn infants with FD rendering this approach not suitable for newborn screening.
References
More filters
Journal ArticleDOI
A more accurate method to estimate glomerular filtration rate from serum creatinine: A new prediction equation
TL;DR: The purpose of this study was to develop an equation from MDRD Study data that could improve the prediction of GFR from serum creatinine concentration, and major clinical decisions in general medicine, geriatrics, and oncology are made by using the Cockcroft-Gault formula and other formulas to predict the level of renal function.
Journal ArticleDOI
Prevalence of lysosomal storage disorders.
TL;DR: There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia.
Journal ArticleDOI
Enzyme replacement therapy in Fabry disease: a randomized controlled trial.
Raphael Schiffmann,Jeffrey B. Kopp,Howard A. Austin,Sharda G. Sabnis,David F. Moore,Thais Weibel,James E. Balow,Roscoe O. Brady +7 more
TL;DR: Intravenous infusions of alpha-gal A are safe and have widespread therapeutic efficacy in Fabry disease and there was an approximately 50% reduction in plasma glycosphingolipid levels, a significant improvement in cardiac conduction, and a significant increase in body weight.
Journal ArticleDOI
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
Marco Spada,Severo Pagliardini,Makiko Yasuda,Turgut Tukel,Geetha Thiagarajan,Hitoshi Sakuraba,Alberto Ponzone,Robert J. Desnick +7 more
TL;DR: The results suggest that the later-onset phenotype of Fabry disease is underdiagnosed among males with cardiac, cerebrovascular, and/or renal disease and raises ethical issues related to when screening should be performed--in the neonatal period or at early maturity, perhaps in conjunction with screening for other treatable adult-ONSet disorders.
Journal ArticleDOI
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
Shoichiro Nakao,Toshihiro Takenaka,M Maeda,C Kodama,A Tanaka,M Tahara,A Yoshida,M Kuriyama,H Hayashibe,Hitoshi Sakuraba +9 more
TL;DR: Seven unrelated patients with atypical variants of hemizygous Fabry's disease were found among 230 men with left ventricular hypertrophy, and Fabry’s disease should be considered as a cause of unexplainedleft ventricularhypertrophy.
Related Papers (5)
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Johannes M. F. G. Aerts,Johanna E. M. Groener,Sijmen Kuiper,Wilma E. Donker-Koopman,Anneke Strijland,Roelof Ottenhoff,Cindy P. A. A. van Roomen,Mina Mirzaian,Frits A. Wijburg,Gabor E. Linthorst,Anouk C. Vedder,Saskia M. Rombach,Josanne Cox-Brinkman,Pentti Somerharju,Rolf G. Boot,Carla E. M. Hollak,Roscoe O. Brady,Ben J. H. M. Poorthuis +17 more