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Fabry Disease — Renal Involvement

X-linked alpha-galactosidase A deficiency causes glycosphingolipid accumulation and progressive nephropathy.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Fabry Disease — Renal Involvement?

Fabry disease is an X-linked lysosomal storage disorder caused by GLA gene mutations encoding alpha-galactosidase A.

Globotriaosylceramide accumulates in podocytes, mesangial cells, distal tubules and vascular endothelium leading to progressive renal injury.

Renal involvement typically begins with microalbuminuria in adolescence and progresses to overt proteinuria, chronic kidney disease and end-stage renal disease in untreated patients by the fourth or fifth decade.

Symptoms

Microalbuminuria and overt proteinuria
Progressive decline in glomerular filtration rate
Polyuria and impaired urinary concentrating ability
Hypertension (late finding)
Acroparesthesia, angiokeratomas and corneal verticillata (multisystem clues)
Cardiac and cerebrovascular complications often co-exist

Risk Factors

GLA gene mutations (X-linked inheritance)
Hemizygous males have severe phenotype
Heterozygous females may have variable, sometimes severe nephropathy
Family history of premature stroke, cardiomyopathy or end-stage renal disease

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained proteinuria in young adults with multisystem features
  • Family history of Fabry disease (genetic counselling and screening)
  • Premature stroke, left ventricular hypertrophy and renal involvement together
  • Progressive proteinuria despite ACE inhibitor or ARB

Treatment Methods

01
Plasma alpha-galactosidase A activity (males) and GLA sequencing (males and females)
02
Renal biopsy with electron microscopy (zebra bodies and lamellar inclusions)
03
Enzyme replacement therapy (agalsidase alfa or beta) — initiate at first signs of organ involvement
04
Migalastat oral chaperone for amenable mutations
05
ACE inhibitor or ARB to reduce proteinuria, target blood pressure less than 130/80
06
Multidisciplinary follow-up (cardiology, neurology, ophthalmology) and genetic counselling

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.