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Zellweger syndrome

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最後更新時間:2018/11/5 15:00:19
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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 academia

    6.aminoaciduria

    7.albuminuria

 

 
治療:

        症狀及支持治療。