The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease.
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http://dx.doi.org/10.1155/2015/257628 | DOI Listing |
JIMD Rep
January 2025
Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.
There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.
View Article and Find Full Text PDFHeart
January 2025
Internal Medicine, Virginia Commonwealth University, Richmond, Virginia, USA.
Int J Cardiol
January 2025
Department of Cardiology, The First Affiliated Hospital of Soochow University, Suzhou, China. Electronic address:
Aims: The study was designed to investigate the characteristics of atrial ventricular coupling and left atrial (LA) function impairment in patients with Fabry disease (FD), especially those in the early stages of the condition.
Methods: A total of 65 patients with Fabry disease who completed echocardiographic examinations from January 2018 to May 2024 were ultimately included. Among them, 25 patients with FD did not have left ventricular (LV) hypertrophy (LVH).
Biosens Bioelectron
January 2025
Institute of Physics, College of Natural Sciences, University of Rzeszow, Rzeszow, Poland.
Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Genetically-determined deficiency or reduced activity of the enzyme (alpha - Galactosidase; α-Gal) leads to the accumulation of sphingolipids in the lysosomes of various cell types, including the heart, kidneys, skin, eyes, central nervous system, and digestive system, triggering damage, leading to the failure of vital organs, and resulting in progressive disability and premature death. FD diagnostics currently depend on costly and time-intensive genetic tests and enzymatic analysis, often leading to delayed or inaccurate diagnoses, which contribute to rapid disease progression.
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