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體染色體隱性遺傳(AR), lysosomal storage disease - Coggle Diagram

- - - - Tay-sach
        
        hexosaminidaseA def.
        
        GM 2 ganglioside is found mainly in neuron , so without hexA , it accumulated in lysosome
        
        cherry red spot in eye
      - Gaucher
        
        beta-glucosidase , also called beta-glucosidase.def.
      - Fabry
        
        X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase
      - Krabbe
      - Niemann pick
        
        acid sphingomyelinase def.
        
        A, B, C 台灣C多 B無神經性症狀 C型屬於細胞內膽固醇代謝異常
      - sandorff
        
        hexosaminidase
- - - - 無症狀，需透過分子檢測才可得知
    - - 輕微溶血，microcytic
    - - HBH=beta4
    - - HB bart =gamma4
        
        hydrops fetalis出生即死亡
  - - - 輕微貧血
        
        HBA減少
        
        HBA2>5%
    - - 重症(cooleys anemia)
        
        出生時無異常，但當完全r-->b，開始貧血，隨外造血，肝脾腫大，長期輸血，iron overload，注射EDTA
- - - - Cu2+累積liver,eye,brain
        
        肝硬化
        
        腦神經異常
        
        Kayser fleischer ring(眼角膜棕綠色環)
        
        penicillin D螯合治療
- - - - type1(most common)
        
        HFE(C6) mut :C282Y or H63D
        
        助鐵入小腸
        
        failed
        
        助TF運輸Fe
      - type2(好青少年)
        
        HAMP mut
        
        不產hepcidin(抑鐵吸收)
        
        HFE2 mut
        
        henojuvelin
        
        降低hepcidin
      - 新生兒型
        
        未明，死胎早產體過輕
      - type3
        
        TFR2 mut
        
        Nonfunction TF
      - type4
        
        SLC40 A1 mut
        
        ferroportin
- - - - Cl通道蛋白異常連帶Na滯留
        
        分泌物黏度高不易排出
        
        Lung infection
- - - - 翻覆感染化膿癒合差粒細胞增生