AI Summary & Key Takeaways
AI InsightAgain, the family had only one male member with the mutation.
📌 3 Key Takeaways
Özet
Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder that arises from a decreased activity of α-galactosidase A. With this study, we evaluated an FD family, which was detected after the screen of transplanted patients. Methods: We were able to screen 200 transplanted patients at the University of Health Science, Haydarpasa Numune Training and Research Center. α-Gal A activity was used for screening of the male patients. Gene analysis was performed for all female transplanted patients. Results: Among 200 patients, one 35 years old female patient had a genetic mutation, which was c.376A>G (p=S126G) heterozygous. She received a renal kidney from her sister in 2015. Genetic analysis of this female donor also revealed the same genetic variation. Starting with this index patient, we communicate with available 38 family members. Among these family members, the genetic analysis was performed to 22 family members. Twelve and 10 family members had negative and positive results, respectively. We could not communicate with 12 family members. Only one male family member had positive result and was the nephew of the index case. Discussion and Conclusion: Eleven family members had positive results for genetic analysis. An 87 years old aunt showed the asymptomatic nature of the disease. Again, the family had only one male member with the mutation.