一个罕见的火花:一个患有脏衰竭的婴儿化脏病例
Aliza Mittal1, Hritvik Jain1, Amarpal Singh1
1Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, IND.
Cureus
|November 13, 2023
概括
初级高氧化尿-1 (PH1),一种罕见的遗传性疾病,由于氧酸盐的积累,导致严重的损伤. 这一案例突出了PH1婴儿早期诊断和管理方面的挑战.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 初级高氧化尿-1 (PH1) 是一种罕见的,自体相逆性遗传疾病.
- 它是由于肝脏酶氨酸:glyoxylate aminotransferase的缺乏造成的.
- 这种缺乏导致系统性氧沙酸盐水平升高,随后导致损伤.
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