婴儿原发性高氧化尿1型: 一个病例报告和文献综述
Yuzhu Zheng1, Qi Li2, Shuang Liang3
1Department of Children Medical Center, Second Hospital of Shandong University, Jinan 250033. bamboo_0335@sina.com.
概括
初级高氧化尿1型 (PH1) 是一种罕见的遗传性疾病,在婴儿中引起损伤. 对AGXT基因的基因测试对于诊断PH1至关重要,特别是在急性功能衰竭的婴儿中.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 原发性高氧化尿 (PH) 是一种罕见的,自身相对递归的代谢障碍.
- PH型1 (PH1) 是最常见的形式,其特点是结石和化反复发生,往往导致急性功能衰竭和婴儿末期病 (ESRD).
- 婴儿PH1携带高死亡率.
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