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Related Experiment Videos

Fabry kidney disease.

Veronica Moran1, Gregorio T Obrador, Ravi Thadhani

  • 1Department of Medicine and Renal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia
|July 28, 2007
PubMed
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Fabry disease (FD) is a lysosomal storage disease (LSD) caused by alpha-galactosidase A deficiency. Enzyme replacement therapy is now available due to gene sequencing and recombinant DNA technology.

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease (FD) is the second most common lysosomal storage disease (LSD), an X-linked disorder resulting from alpha-galactosidase A (alpha-Gal A) deficiency.
  • Mutations in the alpha-Gal A gene (located on Xq22) lead to the accumulation of glycosphingolipids, primarily Gb3, within lysosomes.
  • Clinical manifestations include neuropathic pain, angiokeratomas, and corneal lesions, progressing to cardiac, renal, and cerebrovascular complications.

Purpose of the Study:

  • To provide a comprehensive overview of Fabry disease, including its genetic basis, clinical presentation, and pathological mechanisms.
  • To highlight the renal manifestations of Fabry disease, such as hypertension, proteinuria, and lipiduria, and the implications for end-stage renal disease.
  • To discuss the advancements in therapeutic strategies, including enzyme replacement therapy developed through recombinant DNA technology.

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Main Methods:

  • Review of existing literature on Fabry disease pathophysiology, clinical features, and treatment options.
  • Analysis of genetic and molecular mechanisms underlying alpha-Gal A deficiency and Gb3 accumulation.
  • Examination of clinical data pertaining to organ-specific manifestations and disease progression.

Main Results:

  • Fabry disease is characterized by progressive Gb3 deposition, leading to multi-organ dysfunction, particularly affecting the kidneys.
  • Renal involvement in FD can lead to hypertension, proteinuria, and potentially end-stage renal disease requiring dialysis or transplantation.
  • The cloning and sequencing of the alpha-Gal A gene have enabled the development of enzyme replacement therapies.

Conclusions:

  • Fabry disease is a serious LSD with significant multi-systemic impact, especially on renal function.
  • Early diagnosis and intervention are crucial for managing FD and preventing severe complications.
  • Therapeutic advancements, including enzyme replacement, offer new hope for patients with Fabry disease.