Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Renal involvement in Fabry disease].

Hayet Kaaroud1, Soumaya Béji, K Boubaker

  • 1Service de néphrologie et de médecine interne, Hôpital Charles Nicolle, Tunis.

La Tunisie Medicale
|August 3, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Renal survival in hereditary urolithiasis: a monocentric cohort study from a Tunisian nephrology department.

The Pan African medical journal·2026
Same author

STSM 2025 & 2nd African Medical Writing Congress.

La Tunisie medicale·2026
Same author

Extracapillary immunoglobulin A nephropathy glomerulonephritis discovered during the course of pulmonary tuberculosis: a case report.

The Pan African medical journal·2026
Same author

Renal AA amyloidosis associated with inflammatory bowel disease.

BMC nephrology·2026
Same author

Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Lymphocele after kidney transplantation: Incidence, associated factors and outcomes.

World journal of nephrology·2026

Fabry disease, a genetic disorder, can cause kidney problems in men. Early suspicion based on symptoms like heart issues and kidney damage is crucial for diagnosis and management.

Area of Science:

  • Nephrology
  • Genetics
  • Cardiology

Background:

  • Fabry disease is an X-linked recessive lysosomal storage disorder due to alpha-galactosidase A deficiency.
  • Renal involvement is common in hemizygous males with Fabry disease.

Observation:

  • A 47-year-old male presented with focal segmental glomerulosclerosis and moderate renal failure.
  • Symptoms included acroparesthesias, hearing loss, left ventricular hypertrophy with arrhythmia, and corneal deposits, suggesting hemizygous Fabry disease.

Findings:

  • Diagnosis of Fabry disease was confirmed by low alpha-galactosidase activity.
  • The patient's renal function remained stable over a 5-year follow-up.
  • The patient ultimately died due to cardiac arrhythmia.

Related Experiment Videos

Implications:

  • Glomerulonephritis and hypertrophic cardiomyopathy without hypertension should raise suspicion for Fabry disease.
  • This case highlights the importance of recognizing multisystemic manifestations of Fabry disease.
  • Timely diagnosis and management are critical for patients with Fabry disease, particularly concerning cardiac and renal complications.