Zellweger syndrome
引用 (6)
2024/6/19 10:55:02
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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:
- dihydroxyacetone phosphate acyltransferase(DHAP-AT)activity↓
- long chain fatty acid↑
- serum iron and iron binding capacity↑
- plasmologen↓
- pipecolic academiaaminoaciduria
- albuminuria
治療:
症狀及支持治療。