尿蛋白不耐受:不仅仅是儿童科医生的疾病 - 病例报告
Miriam Rigoldi1, Caterina Mele1, Matteo Breno1
1Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Ranica, Italy.
Nephron
|September 18, 2024
概括
素蛋白不耐受 (LPI) 是一种罕见的代谢障碍. 这一案例突显了LPI在成年人中呈现为慢性病,强调了诊断的微妙症状.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 腎臟病學 (nephrology) 是一種醫學.
背景情况:
- lysinuric蛋白不耐受 (LPI) 是一种罕见的,多系统的新陈代谢先天性错误.
- 它通常在儿童时代表现为生长不良和胃肠道/神经系统问题,原因是尿素循环功能障碍.
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