全血核糖核酸测序分析在高铁血红蛋白血症中的应用：病例报告。

Whole-blood ribonucleic acid sequencing analysis in methemoglobinemia: a case report.

机构信息

Department of Traumatology and Acute Critical Medicine, Osaka University Graduate School of Medicine, 2-15 Yamadaoka, Suita City, Osaka, 565-0871, Japan.

Department of Acute Medicine and Critical Care Medical Center, National Hospital Organization Osaka National Hospital, Osaka, Japan.

出版信息

J Med Case Rep. 2023 Jun 10;17(1):238. doi: 10.1186/s13256-023-03976-0.

DOI:10.1186/s13256-023-03976-0

PMID:37296483

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10257280/

Abstract

INTRODUCTION

Methemoglobinemia is a condition in which methemoglobin is increased and the oxygen carrying capacity of tissues is decreased, causing a lack of oxygen to the whole body. RNA (ribonucleic acid) sequencing technologies have made it possible to systematically examine how the human transcriptome responds to invasive pathologies. To our knowledge, no previous studies have reported the results of RNA sequencing in a patient with methemoglobinemia. We describe the analysis of RNAs from the whole blood of a patient with methemoglobinemia.

CASE PRESENTATION

A 31-year-old Japanese man was brought to our hospital with symptoms of dyspnea due to inhalation of gas from an acetic acid phosphonitrate storage tank at a factory. The nitrogen oxide concentration measured around the storage tank was over 2500 ppm, and he witnessed orange-brown smoke at that time. After entering the area and taking a few breaths, he suddenly became unwell, with dyspnea and numbness in his extremities. He was evacuated from the area within a few minutes, at which time he was suffering from whole-body cyanosis and was still aware of the above symptoms. On arrival at the hospital, his respiration rate was 18 breaths/minute, and his SpO ranged from 80% to 85% on 15 L/minute of oxygen by mask (2.5 hours postexposure). Arterial blood gas testing revealed a methemoglobin level of 23.1%. After the administration of methylene blue, the patient's methemoglobin level normalized and his symptoms improved. Chest X-ray and chest computed tomography showed no evidence of pulmonary edema or interstitial pneumonia, and no other abnormal findings were observed. RNA sequencing was performed on the blood samples obtained at the time of the visit, with the blood sample collected on day 5 used as a control. To our knowledge, the present study is the first to describe the analysis of RNAs from the whole blood of a patient with methemoglobinemia. The RNA sequencing analysis showed that an activated "hydrogen peroxide catabolic process" may be associated with the pathogenesis of methemoglobinemia.

CONCLUSION

The results reported in the present study may explain the pathogenesis of methemoglobinemia.

摘要

简介

高铁血红蛋白血症是一种高铁血红蛋白增加、组织携氧能力降低的疾病，导致全身缺氧。RNA（核糖核酸）测序技术使人们能够系统地研究人类转录组对侵袭性病理的反应。据我们所知，以前没有研究报告过高铁血红蛋白血症患者的 RNA 测序结果。我们描述了对一名高铁血红蛋白血症患者全血 RNA 的分析。

病例介绍

一名 31 岁的日本男性因吸入工厂醋酸磷腈储罐中的气体而出现呼吸困难症状被送到我院。储罐周围测量的氮氧化物浓度超过 2500ppm，当时他看到了橙棕色烟雾。进入该区域并呼吸了几次后，他突然感到不适，出现呼吸困难和四肢麻木。几分钟内他被从该区域撤离，此时他全身发绀，仍有上述症状。到达医院时，他的呼吸频率为 18 次/分钟，面罩吸氧 15L/分钟时 SpO2 为 80%至 85%（暴露后 2.5 小时）。动脉血气检测显示高铁血红蛋白水平为 23.1%。给予亚甲蓝后，患者的高铁血红蛋白水平恢复正常，症状改善。胸片和胸部 CT 未见肺水肿或间质性肺炎的证据，也未发现其他异常。在就诊时采集了血液样本进行 RNA 测序，并以第 5 天采集的血液样本作为对照。据我们所知，本研究首次描述了对高铁血红蛋白血症患者全血 RNA 的分析。RNA 测序分析表明，激活的“过氧化氢分解代谢过程”可能与高铁血红蛋白血症的发病机制有关。