跳到主要內容區塊
:::遺傳諮詢中心 > 衛教專區 > 認識疾病

Zellweger syndrome

引用 (0)
轉寄
最後更新時間:2018/11/5 13:40:07
點閱:1189

Zellweger syndrome
(Cerebro-Hepato-Renal syndrome)

 

疾病簡介:

                  AR;腦、肝、腎等處之細胞其peroxisome量減少或缺乏造成體內very long chain fatty acids的堆積,具genetic heterogeneity,通常在一歲前死亡。

gene locus protein
PEX-1(peroxin-1) 7q21-22 ATPase associated with diverse cellular activity
PEX-2(peroxin-2;PAF 1) 8q21.1 Peroxisomal membrane protein
PEX-3(peroxin-3;PXR 1) 6q23-24 Peroxisomal membrane protein
PEX-5(peroxin-5;PXR 1) 12p13.3 Peroxisome receptor
PEX-6(peroxin-6;PAF 20 6p21.1 Peroxisomal-type ATPase
PEX-12(peroxin-12) 17q12 Peroxisomal membrane protein

病徵:

    生長:postnatal growth deficiency(平均出生體重2740)

    頭頸部:flat occiput、large fontanelle、macrocephaly、flat facies、micrognathia、high forehead、minor ear anomaly

    眼:congenital cataract、hyperlorism、retinal pigmentary change

    腦:嗅葉發育不全、胼胝體發育不全

    心:室中膈缺損、開放性動脈導管

    肝:hepatomegaly、intrahepatic biliary dysgenesis、neonatal jaundice

    腎:水腎、腎皮質小囊腫(renal cortical microcysts)、absent renal peroxisomes

診斷:

  1. dihydroxyacetone phosphate acyltransferase(DHAP-AT)activity↓
  2. long chain fatty acid↑
  3. serum iron and iron binding capacity↑
  4. plasmologen↓
  5. pipecolic academiaaminoaciduria
  6. albuminuria

治療:

        症狀及支持治療。