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Updated: Jun 24, 2025

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一个罕见的尼曼-皮克病A型病例

Faiza Gul¹, Sapna Begum¹, Palwasha Rasool¹

¹Paediatrics, Lady Reading Hospital Peshawar, Peshawar, PAK.

|June 3, 2024

概括

尼曼-皮克病A型 (NPD-A) 是一种罕见的遗传疾病,导致细胞脂肪积累. 这份病例报告详细介绍了一名被诊断患有NPD-A的婴儿,强调其严重的预后和需要支持性护理.

科学领域:

遗传学是一个遗传学.
生物化学生物化学
儿科儿科儿科

背景情况:

尼曼 - 皮克病是一种罕见的,自体相逆性溶酶体储存障碍.
它是由脂肪代谢受损造成的,导致细胞脂质积累.
主要类型包括NPD-A,NPD-B (由于SMPD1突变导致的酸髓酶缺乏症) 和NPD-C (NPC-1/NPC-2突变).

关键词:

发育延迟的发展延迟.这是一种肝炎,肝炎,肝炎.没有能力壮成长.溶酶体储存障碍溶酶体储存障碍德国人 - 皮克病.

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