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Identification of Potential Proteins Interacting with α-Galactosidase A to Analyze the Pathogenesis of Fabry Disease.

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Precision medicine in Fabry disease.

Malte Lenders1, Eva Brand1

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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
|June 21, 2021
PubMed
Summary

Fabry disease (FD) is a rare genetic disorder. Current treatments like enzyme replacement therapy and migalastat improve symptoms, but precision medicine offers tailored strategies for better outcomes.

Keywords:
Fabry diseasechaperone therapyprecision medicinerenal replacement therapyα-galactosidase A

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Rare Diseases

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene.
  • Deficiency in alpha-galactosidase A leads to glycosphingolipid accumulation (Gb3, lyso-Gb3) in lysosomes.
  • This accumulation causes progressive organ damage, including kidney failure, cardiomyopathy, and cerebrovascular events, reducing life expectancy.

Purpose of the Study:

  • To review the clinical presentation, diagnosis, and interdisciplinary management of Fabry disease.
  • To discuss current and emerging therapeutic options, emphasizing precision medicine approaches.

Main Methods:

  • Review of clinical data and therapeutic outcomes for Fabry disease patients.
  • Analysis of diagnostic criteria for male and female patients.
  • Evaluation of enzyme replacement therapies (ERTs) and pharmacological chaperones (migalastat).

Main Results:

  • Diagnosis requires GLA deficiency in leukocytes for males and genetic analysis for females.
  • ERTs (agalsidase-α/β) and migalastat facilitate Gb3 clearance but can have side effects like infusion reactions and anti-drug antibodies.
  • Precision medicine aims to personalize treatment based on individual genetic mutations and biomarker levels.

Conclusions:

  • Fabry disease management requires an interdisciplinary approach.
  • Current therapies offer benefits but have limitations, highlighting the need for personalized treatment strategies.
  • Precision medicine holds promise for optimizing Fabry disease prevention and treatment by considering patient-specific factors.