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[Screening for Fabry disease in patients with kidney disease]

C Yu1, Z Li1, R Wang1

  • 1Department of Nephrology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China.

Zhonghua Nei Ke Za Zhi
|March 30, 2025
PubMed

Insights

Fabry disease affects nearly 0.3% of kidney disease patients. Early screening is vital, as Fabry disease presents complex and varied clinical features in patients with kidney disease.

Area of Science:

  • Rare genetic lysosomal storage disorder
  • Nephrology and genetics

Context:

  • Fabry disease is an X-linked genetic disorder.
  • Kidney disease is a common complication of Fabry disease.

Purpose:

  • Determine the prevalence of Fabry disease in patients with kidney disease.
  • Observe the clinical features of Fabry disease in kidney disease patients.

Summary:

  • The study included 1,693 patients with proteinuria or renal insufficiency.
  • The overall prevalence of Fabry disease was 0.295% (5/1,693).
  • Prevalence was 0.297% in males and 0.293% in females.

Impact:

  • Highlights the importance of screening kidney disease patients for Fabry disease.
  • Suggests further research into the pathogenicity of GLA gene mutations.
  • Emphasizes the complex and heterogeneous clinical manifestations of Fabry disease in kidney disease patients.

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