一个患有原发性纤维动力障碍的儿童的复发性肺结核:一种罕见的关联
Dhruv Gandhi1, Reepa Agrawal1, Zahabiya Nalwalla1
1Pediatric TB Clinic, Department of Pediatric Infectious Diseases, B. J. Wadia Hospital for Children, Mumbai, India.
Paediatrics and international child health
|January 7, 2026
概括
一个患有复发性肺结核 (PTB) 的儿童的初级状动力障碍 (PCD) 通过使用整个外体序列测序来诊断. 这一案例凸显了在患有持续性肺部问题的儿科患者中进行PCD遗传检测的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 肺部病理学 肺部病理学
- 传染性疾病 传染性疾病
背景情况:
- 主要纤维动力障碍 (PCD) 是一种罕见的遗传疾病,影响纤维动力,导致慢性肺部感染.
- 复发性肺部感染,如结核病 (PTB),在儿童中可能具有挑战性,特别是当与潜在疾病相关时.
研究的目的:
- 报告一个8岁男孩患有复发性PTB和新诊断的PCD的病例.
- 强调整体外体序列 (WES) 在诊断患有支气管切除和复发性感染的儿科患者的PCD中的作用.
主要方法:
- 一个8岁男孩的病例报告,患有慢性呼吸系统症状和PTB病史.
- PCD的诊断通过整体外因子测序 (WES) 得到证实.
- 高分辨率计算机断层扫描 (HRCT) 用于评估肺部结构;Xpert MTB/Rif Ultra用于识别*Mycobacterium结核病*.
主要成果:
- 患者出现了复发性PTB的症状,尽管先前的治疗.
- 在HRCT中发现了支气管切除性变化和慢性补充性肺病.
- WES发现了一种未知意义的PCD变体,导致PCD诊断 (PICADAR评分8).
结论:
- 这一案例强调了临床怀疑和遗传评估 (WES) 对于患有复发性肺结核和支气管切除症的儿科患者的需要.
- 诊断PCD对于管理慢性支性肺病和预防进一步的并发症至关重要.
- 早期识别PCD可以指导相关呼吸道疾病的适当治疗策略.
相关概念视频
01:29Pulmonary Tuberculosis I
820
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...
820
01:28Pulmonary Tuberculosis II
1.4K
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...
1.4K
01:28Pulmonary Tuberculosis V
532
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...
532
01:31Pulmonary Tuberculosis III
921
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:
921
01:23Cystic Fibrosis: Pathogenesis
703
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
703
01:17Other Pulmonary Disorders
1.5K
Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
1.5K