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Related Experiment Video

Updated: Jan 25, 2026

Models and Methods to Evaluate Transport of Drug Delivery Systems Across Cellular Barriers
18:57

Models and Methods to Evaluate Transport of Drug Delivery Systems Across Cellular Barriers

Published on: October 17, 2013

47.3K

[Case of Fabry's disease].

P Atanasova, D Doĭchinov, T Pramatarov

    Vutreshni Bolesti
    |January 1, 1982
    PubMed
    Summary

    This case study highlights a patient with proteinuria, edema, and hypertension, ultimately diagnosed with Fabry syndrome. Early recognition of extrarenal symptoms is crucial for timely Fabry disease diagnosis.

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    Area of Science:

    • Nephrology
    • Genetics
    • Internal Medicine

    Background:

    • Fabry disease is a rare genetic lysosomal storage disorder.
    • It can present with diverse clinical manifestations, often affecting multiple organ systems.
    • Renal involvement is a common and serious complication of Fabry disease.

    Observation:

    • A patient presented with nephrotic-range proteinuria, edema, arterial hypertension, and signs of chronic kidney disease.
    • The patient also exhibited significant extrarenal symptoms, including peripheral neuropathy (paresthesia, numbness, burning pain) and skin lesions.
    • These clinical findings prompted further investigation into the underlying cause.

    Findings:

    • Diagnostic workup revealed a predominantly glomerular renal disease.
    • Kidney biopsy confirmed specific pathological signs consistent with Fabry syndrome.
    • The constellation of renal and extrarenal symptoms pointed towards a diagnosis of Fabry disease.

    Implications:

    • This case underscores the importance of considering Fabry disease in patients with unexplained renal abnormalities and extrarenal manifestations.
    • Timely diagnosis of Fabry disease allows for earlier initiation of enzyme replacement therapy and management of complications.
    • Increased awareness among clinicians can improve the diagnostic rate of this rare genetic disorder.

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    Models and Methods to Evaluate Transport of Drug Delivery Systems Across Cellular Barriers
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    Models and Methods to Evaluate Transport of Drug Delivery Systems Across Cellular Barriers

    Published on: October 17, 2013

    47.3K