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Global Incurable Diseases Tracker

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Nephrologic Disease

Fabry Disease (Renal Manifestations)

HIGH SEVERITY

X-linked lysosomal storage disorder causing accumulation of globotriaosylceramide due to alpha-galactosidase A deficiency. Affects multiple organs including kidneys (proteinuria, progressive renal failure), heart, and nervous system. Renal involvement is major cause of morbidity.

Global Affected

150.0K

Countries

16

Symptoms

Proteinuria
Progressive renal dysfunction
Hematuria
Acroparesthesias (burning pain)
Angiokeratomas
Hypohidrosis
Corneal opacities
Cardiac hypertrophy

Treatment Options

Enzyme replacement therapy (agalsidase)
Oral chaperone therapy (migalastat)
ACE inhibitors/ARBs
Dialysis
Kidney transplantation
Pain management
Antiplatelet agents

Risk Factors

1X-linked inheritance
2GLA gene mutations
3Family history
4Male gender (more severe)

Diagnostic Methods

  • 1Alpha-galactosidase A enzyme assay
  • 2Genetic testing
  • 3Kidney biopsy
  • 4Urinalysis
  • 5Echocardiogram
  • 6Ophthalmologic examination

Prognosis

Untreated males: ESRD by age 40-50. ERT slows progression but does not cure. Transplanted kidneys do not develop Fabry pathology.

Prevention

  • Newborn screening
  • Family screening
  • Early ERT initiation
  • Genetic counseling
  • Regular monitoring of kidney function

Research Status

Enzyme replacement therapy (agalsidase) and Oral chaperone therapy (migalastat) are primary treatments. Research focuses on improved therapies and outcomes.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChinaIsrael

Sources

  • https://www.niddk.nih.gov/health-information/kidney-disease/fabry-disease
  • https://rarediseases.org/rare-diseases/fabry-disease
  • https://www.ncbi.nlm.nih.gov/books/NBK1298

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.