• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

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.

DOI:10.1002/ccr3.70384
PMID:40177161
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11961375/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26ab/11961375/d102713ccd5c/CCR3-13-e70384-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26ab/11961375/d102713ccd5c/CCR3-13-e70384-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26ab/11961375/d102713ccd5c/CCR3-13-e70384-g001.jpg

相似文献

1
An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review.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
Clin Case Rep. 2025 Apr 1;13(4):e70384. doi: 10.1002/ccr3.70384. eCollection 2025 Apr.
2
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.酪氨酸血症停用尼替西农（NTBC）治疗后的神经危机
Iran J Child Neurol. 2017 Fall;11(4):66-70.
3
Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report.1 型酪氨酸血症患者在两次妊娠及哺乳期使用尼替西农治疗：病例报告。
J Pediatr Endocrinol Metab. 2021 Sep 10;35(2):259-265. doi: 10.1515/jpem-2021-0465. Print 2022 Feb 23.
4
Type 1 tyrosinemia in Finland: a nationwide study.芬兰 1 型酪氨酸血症：一项全国性研究。
Orphanet J Rare Dis. 2020 Oct 12;15(1):281. doi: 10.1186/s13023-020-01547-w.
5
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.琥珀酰丙酮的重要性：新生儿筛查正常后出现高胰岛素血症和多器官功能衰竭的I型酪氨酸血症
Int J Neonatal Screen. 2020 Jun;6(2). doi: 10.3390/ijns6020039. Epub 2020 May 16.
6
Diagnosis and treatment of hereditary tyrosinemia in Japan.日本遗传性酪氨酸血症的诊断与治疗
Pediatr Int. 2015;57(1):37-40. doi: 10.1111/ped.12550.
7
Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.尽管使用了尼替西农治疗且甲胎蛋白恢复正常，但1型遗传性酪氨酸血症仍需肝移植的肝细胞癌。
Pediatr Transplant. 2022 Nov;26(7):e14334. doi: 10.1111/petr.14334. Epub 2022 Jun 13.
8
Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretion.基于琥珀酰丙酮排泄量减少，对接受1型酪氨酸血症治疗的患者中尼替西农治疗范围的验证。
JIMD Rep. 2019 Mar 14;46(1):75-78. doi: 10.1002/jmd2.12023. eCollection 2019 Mar.
9
Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review.黎巴嫩1型遗传性酪氨酸血症的诊断与治疗挑战：一项12年回顾性研究
Front Pediatr. 2021 Aug 6;9:698577. doi: 10.3389/fped.2021.698577. eCollection 2021.
10
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.尼替西农（NTBC）治疗对魁北克肝肾功能酪氨酸血症临床病程的影响。
Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13.

本文引用的文献

1
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.1型酪氨酸血症的新生儿筛查假阴性——需要用琥珀酰丙酮重新评估新生儿筛查
Int J Neonatal Screen. 2023 Dec 4;9(4):66. doi: 10.3390/ijns9040066.
2
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.酪氨酸血症停用尼替西农（NTBC）治疗后的神经危机
Iran J Child Neurol. 2017 Fall;11(4):66-70.
3
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients.I型酪氨酸血症患者的神经和神经心理问题
Adv Exp Med Biol. 2017;959:111-122. doi: 10.1007/978-3-319-55780-9_10.
4
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.使用琥珀酰丙酮对1型酪氨酸血症进行新生儿筛查——检测准确性的系统评价
Orphanet J Rare Dis. 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z.
5
Tyrosinemia Typel: A case report.1型酪氨酸血症：病例报告
Sudan J Paediatr. 2011;11(1):64-7.
6
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.与健康对照相比，1型酪氨酸血症患者的神经认知结局。
Orphanet J Rare Dis. 2016 Jun 29;11(1):87. doi: 10.1186/s13023-016-0472-5.
7
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.1型酪氨酸血症与酷似1型酪氨酸血症神经危机的胰腺炎罕见关联的病例报告
Balkan Med J. 2016 May;33(3):370-2. doi: 10.5152/balkanmedj.2016.141074. Epub 2016 May 1.
8
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.1型酪氨酸血症与停用尼替西农1个月后出现的不可逆神经危机
Metab Brain Dis. 2016 Oct;31(5):1181-3. doi: 10.1007/s11011-016-9833-y. Epub 2016 May 17.
9
Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I.尼替西农治疗Ⅰ型酪氨酸血症的成本-后果分析
Can J Hosp Pharm. 2015 May-Jun;68(3):210-7.
10
Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience.土耳其1型遗传性酪氨酸血症：20年单中心经验
Pediatr Int. 2015 Apr;57(2):281-9. doi: 10.1111/ped.12503. Epub 2014 Dec 11.