BACKGROUND: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body's cell types and fluids. Patients with rare genetic diseases and non-specific symptoms often experience substantial diagnostic delays, which can negatively impact the prompt initiation of treatment. If FD is not treated specifically, end organ damage (such as chronic renal failure, hypertrophic cardiomyopathy with arrhythmia, and strokes) impairs quality of life and reduces life expectancy. PATIENTS AND METHODS: For 83 consecutive patients with FD referred to the Russian reference center for lysosomal storage diseases, family trees were built and genetic testing (cascade genotyping) was offered to family members. RESULTS: The pathogenic GLA variant associated with FD was identified for all 83 probands. Family testing using cascade genotyping enabled the identification of 165 additional cases of FD among the tested 331 at-risk family members. DISCUSSION: This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease. Raising awareness of FD among clinicians is important for earlier diagnosis and specific treatment.
- Klíčová slova
- Fabry disease, cascade genotyping, early diagnosis, family screening, rare diseases,
- MeSH
- alfa-galaktosidasa genetika MeSH
- chronická renální insuficience * diagnóza genetika MeSH
- Fabryho nemoc * diagnóza genetika metabolismus MeSH
- genetické testování MeSH
- glykosfingolipidy MeSH
- kvalita života MeSH
- lidé MeSH
- mutace MeSH
- rodina MeSH
- vzácné nemoci genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- alfa-galaktosidasa MeSH
- glykosfingolipidy MeSH
