An Overlooked Family with a Rare Mutation for Fabry Disease Fabry Hastalığı için Nadir Bir Mutasyon Taşıyan Gözden Kaçan Bir Aile
Turk Kardiyoloji Dernegi Arsivi, cilt.53, sa.4, ss.281-285, 2025 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 53 Sayı: 4
- Basım Tarihi: 2025
- Doi Numarası: 10.5543/tkda.2024.27488
- Dergi Adı: Turk Kardiyoloji Dernegi Arsivi
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Central & Eastern European Academic Source (CEEAS), EMBASE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.281-285
- Anahtar Kelimeler: Fabry disease, GLA gene, family screening, genetics
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Fabry disease is a rare disorder characterized by multi-organ involvement, caused by mutations in the GLA gene. Although more than 1,000 mutations have been identified in the GLA gene, the discovery and detection of new mutations continue to enhance this dataset. We report a patient examined at our clinic for heart valve disease, who had a history of kidney transplantation and hemodialysis. With a high clinical suspicion, we diagnosed Fabry disease and will discuss its significant impact on the family. Effective family screening allowed us to identify unaffected family members, thus preventing or mitigating potential future organ involvement. Additionally, the mutation found in this family, although rarely reported before, is still described as a variant of uncertain significance (VUS) in some sources. We believe this finding will make a valuable contribution to genetic literature.