Biomarkers for diagnosing Fabry disease and the use thereof

The present invention relates to a biomarker for diagnosing Fabry disease and a use thereof. It is confirmed that a complement component 3a (C3a) is exhibited at a high level in both men and women with Fabry disease, and the complement component 3a (C3a) is maintained at a high level in a patient wi...

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Bibliographische Detailangaben
Hauptverfasser: LEE BEOM HEE, HEO SUN HEE, GO HEOUN JEONG
Format: Patent
Sprache:eng ; kor
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Beschreibung
Zusammenfassung:The present invention relates to a biomarker for diagnosing Fabry disease and a use thereof. It is confirmed that a complement component 3a (C3a) is exhibited at a high level in both men and women with Fabry disease, and the complement component 3a (C3a) is maintained at a high level in a patient with Fabry disease which cannot be treated with an enzyme replacement therapy. Accordingly, the complement component 3a (C3a) is provided as a bio marker for diagnosing Fabry disease and predicting prognosis thereof. 본 발명은 파브리 병 진단용 바이오 마커 및 이의 용도에 대한 것으로, 보체 요소 3a(complement component 3a, C3a)가 파브리 병 환자 남녀 모두에게 높은 수준으로 나타나며, 효소 대체 요법으로 치료되지 않는 파브리 병 환자에서 보체 요소 3a(complement component 3a, C3a)가 높은 수준으로 유지되는 것을 확인함으로써, 보체 요소 3a(complement component 3a, C3a)를 파브리 병의 진단 또는 예후 예측을 위한 바이오 마커로 제공한다.