• 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

尿素循环障碍中的高血压：病例报告

High Blood Pressure in a Urea Cycle Disorder: Case Report.

作者信息

Solé Carolina, Arriaga María, Cañedo Elvira

机构信息

Department of Neonatology, Gregorio Marañon Hospital, Madrid, Spain.

Department of Metabolism Diseases and Nutrition, Niño Jesús Hospital, Madrid, Spain.

出版信息

AJP Rep. 2020 Oct;10(4):e347-e351. doi: 10.1055/s-0040-1716733. Epub 2020 Oct 7.

DOI:10.1055/s-0040-1716733
PMID:33133764
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7591362/
Abstract

Urea cycle disorders (UCDs) form a group of metabolic pathological conditions that might develop serious neurological consequences. Early diagnosis, before irreversible damage is established, is the most important prognostic and morbidity factor.  We present the case of a 5-day newborn with high blood pressure and respiratory distress. Diagnosis was type I citrullinemia. With appropriate citrullinemia guided-treatment blood pressure returned to normal.  High blood pressure has been rarely described as a lead symptom for the debut of a UCD. We must take this into consideration as an early recognition and treatment of these disorders are of the utmost importance.

摘要

尿素循环障碍（UCDs）是一组可能导致严重神经后果的代谢性病理状况。在不可逆转的损伤形成之前进行早期诊断，是最重要的预后和发病因素。 我们报告了一例5天大的新生儿，伴有高血压和呼吸窘迫。诊断为I型瓜氨酸血症。通过适当的瓜氨酸血症指导治疗，血压恢复正常。 高血压很少被描述为UCD首次出现的主要症状。我们必须将此考虑在内，因为对这些疾病的早期识别和治疗至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/f66877926525/10-1055-s-0040-1716733-i200069-7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/b35ae941239f/10-1055-s-0040-1716733-i200069-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/54a3f504c4cc/10-1055-s-0040-1716733-i200069-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/c2a491e13b48/10-1055-s-0040-1716733-i200069-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/fbd0d52180e6/10-1055-s-0040-1716733-i200069-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/aa268f39e8a4/10-1055-s-0040-1716733-i200069-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/8c9fa59fc41b/10-1055-s-0040-1716733-i200069-6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/f66877926525/10-1055-s-0040-1716733-i200069-7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/b35ae941239f/10-1055-s-0040-1716733-i200069-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/54a3f504c4cc/10-1055-s-0040-1716733-i200069-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/c2a491e13b48/10-1055-s-0040-1716733-i200069-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/fbd0d52180e6/10-1055-s-0040-1716733-i200069-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/aa268f39e8a4/10-1055-s-0040-1716733-i200069-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/8c9fa59fc41b/10-1055-s-0040-1716733-i200069-6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebcd/7591362/f66877926525/10-1055-s-0040-1716733-i200069-7.jpg

相似文献

1
High Blood Pressure in a Urea Cycle Disorder: Case Report.尿素循环障碍中的高血压：病例报告
AJP Rep. 2020 Oct;10(4):e347-e351. doi: 10.1055/s-0040-1716733. Epub 2020 Oct 7.
2
Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.尿素循环障碍患者代谢相关肝损伤的病理生理学-一个新假说。
World J Gastroenterol. 2017 Nov 28;23(44):7930-7938. doi: 10.3748/wjg.v23.i44.7930.
3
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.印度的尿素循环障碍：临床病程、生化和遗传研究以及产前检测。
Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1.
4
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition.成年期迟发性尿素循环障碍因严重营养不良而显现
Nutrition. 2014 Jul-Aug;30(7-8):943-7. doi: 10.1016/j.nut.2013.12.011. Epub 2013 Dec 16.
5
[Clinical and laboratory screening studies on urea cycle defects].[尿素循环缺陷的临床与实验室筛查研究]
Zhonghua Er Ke Za Zhi. 2005 May;43(5):331-4.
6
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.利用疾病特异性诱导多能干细胞建立1型尿素循环障碍瓜氨酸血症模型。
Biochem Biophys Res Commun. 2017 May 6;486(3):613-619. doi: 10.1016/j.bbrc.2017.03.037. Epub 2017 Mar 14.
7
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.疾病发作年龄和血氨峰值而非干预变量可预测尿素循环障碍的神经学转归。
J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22.
8
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.高血压，尿素循环障碍新生儿表现的一个警示信号。
Orphanet J Rare Dis. 2019 Apr 8;14(1):80. doi: 10.1186/s13023-019-1055-z.
9
Hereditary urea cycle diseases in Finland.芬兰的遗传性尿素循环疾病。
Acta Paediatr. 2008 Oct;97(10):1412-9. doi: 10.1111/j.1651-2227.2008.00923.x. Epub 2008 Jul 9.
10
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.阿根廷患者尿素循环障碍：临床表现、生化和遗传学发现。
Orphanet J Rare Dis. 2019 Aug 19;14(1):203. doi: 10.1186/s13023-019-1177-3.

引用本文的文献

1
Elevated isoleucine may be a protective factor for primary hypertension: A pooled causal effect study.异亮氨酸升高可能是原发性高血压的保护因素：一项汇总因果效应研究。
Medicine (Baltimore). 2025 Feb 28;104(9):e41651. doi: 10.1097/MD.0000000000041651.

本文引用的文献

1
The Effects of Oral l-Arginine and l-Citrulline Supplementation on Blood Pressure.口服 l-精氨酸和 l-瓜氨酸补充对血压的影响。
Nutrients. 2019 Jul 22;11(7):1679. doi: 10.3390/nu11071679.
2
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.尿素循环障碍的诊断和管理建议指南：第一版修订。
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15.
3
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.高血压，尿素循环障碍新生儿表现的一个警示信号。
Orphanet J Rare Dis. 2019 Apr 8;14(1):80. doi: 10.1186/s13023-019-1055-z.
4
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.伴有高氨血症的先天性代谢缺陷：尿素循环障碍及相关疾病
Pediatr Clin North Am. 2018 Apr;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004. Epub 2018 Feb 2.
5
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?两名患有亚硫酸盐氧化酶缺乏症患者的系统性高血压：一氧化氮缺乏的结果？
Mol Genet Metab. 2009 Sep-Oct;98(1-2):195-7. doi: 10.1016/j.ymgme.2009.06.006. Epub 2009 Jun 13.
6
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.近端尿素循环障碍所致新生儿高氨血症性脑病的脑部磁共振成像
AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1184-7.