Paroxysmal nocturnal hemoglobinuria
陣發性睡眠性血紅蛋白尿
(PNH) (Blood 2009;113:6522)
- Acquired clonal stem cell disorder
- inactivating somatic : PIG-A gene
- → deficiency of GPI-anchor
- for CD55 & CD59 ( ❌ of complement)
- TLDR: PIG-A 壞掉，就 ✖ 不能產生 ↪ 連結 CD55, CD59 的 Anchor (glycoprotein IIbIIIa inhibitor)
- → complement-mediated RBC lysis
- alternative pathway
- plt aggregation
- hypercoagulability
Clinical
血管內溶血、血栓形成和骨髓衰竭引起並 〓 發症。 血紅蛋白尿症、疲勞 呼吸急促 Budd-Chiari syndrome
-
intravascular hemolytic anemia
-
Eculizumab anti-C5 monoclonal antibody
- Eculizumab 阻止 C5 轉化 為: C5a 和 C5b 因子
- 因此，有效抑制 MAC 形成和補體介導的 → 裂解