在一个婴儿中,慢性粒状瘤疾病伪装成结核淋巴炎的病例
Vesta Snigdha Hasa1, Sanjay Kumar Sahu2, Chinmay Kumar Behera3
1Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.
Cureus
|August 8, 2024
概括
慢性颗粒状体疾病 (CGD) 是一种罕见的免疫疾病,导致经常性感染. 早期诊断和造血干细胞移植 (HSCT) 为患有CGD的患者提供了有利的预后.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 慢性颗粒瘤性疾病 (CGD) 是一种罕见的初级免疫缺陷,其特征是由于缺陷的NADPH氧化酶导致的复发性细菌和真菌感染.
- 患者经常出现严重的感染,导致诊断挑战,特别是在结核病流行地区.
研究的目的:
- 在婴儿中错误诊断为结核病的CGD病例报告.
- 突出诊断困难,并强调在复发性感染中考虑原发性免疫缺陷的重要性.
- 通过造血干细胞移植 (HSCT) 证明CGD的成功管理.
主要方法:
- 一个11个月大的女性患有复发性感染的病例报告.
- 诊断工作包括免疫球蛋白水平,尼特蓝四 (NBT) 和二罗达胺 (DHR) 测试,以及遗传分析 (临床外体序列).
- 治疗涉及预防性抗微生物药物和成功的HSCT.
主要成果:
- 最初被诊断为结核淋巴腺炎的患者,尽管接受了治疗,但仍出现了持续的感染.
- 异常的NBT和DHR测试表明CGD,由一个新的NCF2基因突变证实.
- 成功的HSCT导致患者在治疗后保持无感染状态.
结论:
- 诊断CGD可能具有挑战性,通常模仿结核病等感染.
- 基因检测对于识别特定突变至关重要,例如在NCF2基因中,用于自身逆性CGD.
- 早期诊断和及时的HSCT显著改善了CGD患者的结果,提供了有利的预后.
更多相关视频
10:04Analysis of 18FDG PET/CT Imaging as a Tool for Studying Mycobacterium tuberculosis Infection and Treatment in Non-human Primates
Published on: September 5, 2017
18.8K
06:32Protective Efficacy and Pulmonary Immune Response Following Subcutaneous and Intranasal BCG Administration in Mice
Published on: September 19, 2016
10.6K
相关概念视频
Pulmonary Tuberculosis II
215
Tuberculosis, or TB, is a bacterial infectious disease caused by Mycobacterium tuberculosis. While its primary impact is on the lungs, leading to pulmonary tuberculosis, it can also affect various other organs, a condition referred to as extrapulmonary tuberculosis.
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
215
Pulmonary Tuberculosis III
316
Tuberculosis (TB) is a contagious infection primarily affecting the lung parenchyma but which can also affect other body parts. TB can be classified based on disease development, presentation, and the affected anatomical site.
The first classification is based on the development of the disease, and it includes the following categories:
The first classification is based on the development of the disease, and it includes the following categories:
316
Pulmonary Tuberculosis IV
134
Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...
134
Pulmonary Tuberculosis I
227
Tuberculosis, often called TB, is a contagious illness primarily caused by Mycobacterium tuberculosis. It mainly affects the lung parenchyma but can also impact other body parts.
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
227
Pulmonary Tuberculosis V
176
Medical management of tuberculosis (TB) patients involves a comprehensive approach that includes diagnosis, treatment, and monitoring. The specific strategies can vary depending on the type of tuberculosis (latent or active), the patient's overall health status, and other considerations.
Latent tuberculosis infection occurs when TB bacteria are present in a person's body, but are not causing illness or symptoms. It is not contagious, and preventive treatment is crucial to avoid the...
Latent tuberculosis infection occurs when TB bacteria are present in a person's body, but are not causing illness or symptoms. It is not contagious, and preventive treatment is crucial to avoid the...
176
Immunodeficiency Diseases
928
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
928
