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A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease.

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Fabry disease: diagnostic methods in nephrology practice.

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    Summary
    This summary is machine-generated.

    Fabry disease (FD) is a rare genetic disorder causing kidney damage due to low alpha-galactosidase A activity. Early diagnosis is crucial for effective enzyme replacement therapy (ERT) to prevent advanced kidney disease.

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    Area of Science:

    • Genetics and rare diseases
    • Lysosomal storage disorders
    • Nephrology

    Background:

    • Fabry disease (FD) is an X-linked genetic disorder caused by GLA gene mutations.
    • It leads to deficient alpha-galactosidase A (α-Gal A) activity and glycosphingolipid accumulation.
    • Chronic kidney disease is a major complication, often leading to end-stage renal disease.

    Purpose of the Study:

    • Highlight the importance of early Fabry disease diagnosis.
    • Address the challenges in diagnosing FD in nephrology settings.
    • Discuss factors influencing diagnostic rates and awareness.

    Main Methods:

    • Review of current understanding of Fabry disease pathophysiology.
    • Analysis of clinical presentation and diagnostic challenges.
    • Discussion of the impact of delayed diagnosis on patient outcomes.

    Main Results:

    • Delayed diagnosis of FD is common in nephrology, with many patients identified at advanced stages.
    • Significant variability exists in FD diagnosis rates across regions.
    • Lack of awareness and diagnostic accessibility contribute to late detection.

    Conclusions:

    • Early diagnosis of Fabry disease is critical for timely intervention with enzyme replacement therapy (ERT).
    • Improving physician awareness and diagnostic accessibility are essential to overcome diagnostic delays.
    • Timely diagnosis can prevent irreversible kidney damage and improve patient prognosis.