一名儿科患者的1型酪氨酸血症异常表现：病例报告及全面综述
An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review.
作者信息
Rouhafshari Mahsa, Hadi Imanieh Mohammad, Khazaei Mahdi, Radaei Zahra, Barzegar Hamide
机构信息
Department of Pediatric Gastroenterology Shiraz University of Medical Sciences Shiraz Iran.
Department of Pediatric Gastroenterology, Gastroenterohepatology Research Center of Nemazee Hospital Shiraz University of Medical Sciences Shiraz Iran.
出版信息
Clin Case Rep. 2025 Apr 1;13(4):e70384. doi: 10.1002/ccr3.70384. eCollection 2025 Apr.
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19-month-old girl who developed respiratory distress requiring intubation, with abnormal laboratory findings, including liver function tests. Further work-up, including succinylacetone testing, confirmed tyrosinemia. She responded remarkably to nitisinone treatment.
1型酪氨酸血症常表现为肝脏、肾脏或周围神经病变。在使用尼替西农等治疗方法之前，治疗手段仅限于饮食调整和肝移植。我们报告一名19个月大的女童，她出现呼吸窘迫需要插管，实验室检查结果异常，包括肝功能检查。进一步检查，包括琥珀酰丙酮检测，确诊为酪氨酸血症。她对尼替西农治疗反应显著。
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