TürkiyeDiagnosis and screening
Fabry screening of dialysis patients in Ankara: one patient led to 6 carriers in the family
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Ankara, 1,359 patients at 8 dialysis centers had a gene test for Fabry disease. A definite Fabry diagnosis was made in one patient. The patient's 10 relatives were tested, and the disease gene was found in 6 of them. Enzyme treatment was started in three of the carriers. The authors note that an enzyme test alone may miss some changes.
What does it mean for patients and families?
Testing the family of a diagnosed person can find people without symptoms early. You can go to a genetics unit for family screening.
Source
Scientific paper: Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases. Medicina, 2026. DOI: 10.3390/medicina62071343 · PubMed 42512885
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Fabry disease
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.