概述

肾上腺脑白质营养不良是一种遗传性(基因性)疾病,会损害大脑神经细胞的绝缘膜(髓鞘)。

肾上腺脑白质营养不良(ALD)令您的身体无法分解极长链脂肪酸(VLCFA),导致饱和 VLCFA 在大脑、神经系统和肾上腺中积聚。

ALD 的最常见类型是因 X 染色体上的遗传缺陷所致的 X 连锁 ALD。X 连锁 ALD 由女性携带,但对男性的影响更加严重。

X 连锁 ALD 的形式包括:

  • 儿童期发病的 ALD这类 X 连锁 ALD 通常发生在 4 到 10 岁之间。大脑白质逐渐受损(脑白质营养不良),且症状随时间而恶化。如果不及早诊断,儿童期发病的 ALD 可能会在 5 至 10 年内导致死亡。
  • 艾迪生病。ALD 患者的激素分泌腺体(肾上腺)通常无法产生足够的类固醇(肾上腺功能不全),从而导致被称为“艾迪生病”的 X 连锁 ALD
  • 肾上腺脊髓神经病。成年后发病的 X 连锁 ALD 相对没有那么严重,且发展较慢,其症状包括步态僵硬以及膀胱和肠功能障碍。携带 ALD 的女性可能会出现轻度的肾上腺脊髓神经病。

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Feb. 07, 2020

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