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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Fabry Disease with Pacemaker Implantation as the Initial Event.

Yuji Kato1, Ayako Ishikawa2, Satoshi Aoki1

  • 1Department of Nephrology, Japanese Red Cross Ishinomaki Hospital, Japan.

Internal Medicine (Tokyo, Japan)
|June 28, 2019
PubMed
Summary

Fabry disease (FD), a rare genetic disorder, presents uniquely in a 34-year-old male with initial cardiac issues preceding kidney dysfunction. This case highlights an atypical progression of FD, emphasizing cardiac events as the primary manifestation.

Keywords:
Fabry diseaseLyso-Gb3W340Xchronic kidney diseasemulberry cellpacemaker implantation

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Area of Science:

  • Genetics
  • Nephrology
  • Cardiology

Background:

  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity.
  • FD typically leads to progressive multi-organ damage, including the kidneys and heart.

Observation:

  • A 34-year-old male presented with renal dysfunction and a history of pacemaker implantation at age 24.
  • Investigations confirmed undetectable alpha-galactosidase A activity and revealed the W340X mutation.
  • Renal biopsy showed characteristic podocyte vacuolization.

Findings:

  • This patient's presentation is atypical, with cardiac disease manifesting before significant renal impairment.
  • The W340X mutation was identified as the genetic cause of Fabry disease.
  • Enzyme replacement therapy with agalsidase beta was initiated.

Implications:

  • This case underscores the variable clinical presentation of Fabry disease.
  • It suggests that cardiac manifestations can be the initial presenting sign in some FD patients.
  • Early diagnosis and treatment are crucial for managing Fabry disease and preventing severe complications.