Gomes Rita, Queirós Joana, Borges Joana, Cardoso Ana Lúcia, Barbosa Telma
Pediatrics, Centro Materno Infantil do Norte Albino Aroso, Centro Hospitalar Universitário do Porto, Porto, PRT.
Pediatrics, Centro Hospitalar Vila Nova de Gaia/Espinho, Porto, PRT.
Cureus. 2023 Jan 25;15(1):e34177. doi: 10.7759/cureus.34177. eCollection 2023 Jan.
We report the case of an adolescent with severe primary ciliary dyskinesia (PCD) phenotype associated with a rare genotype. His clinical condition deteriorated, with daily cough and breathlessness, hypoxemia, and lung function decline. Despite being started on home noninvasive ventilation (NIV), the symptoms progressed to dyspnea at rest and thoracic pain. High-flow nasal cannula (HFNC) was started during the daytime as an adjuvant to NIV, and he was started on regular oral opioids for pain and dyspnea control. There was a clear improvement in comfort and dyspnea and breathing work relief. Additionally, better exercise tolerance was also noted. He is currently on the lung transplant waiting list. We aim to emphasize the benefits of HFNC as an add-on therapy for the management of chronic breathlessness since our patient experienced an improvement in breathing and exercise tolerance. However, there is a paucity of studies regarding domiciliary HFNC, particularly in pediatric age. Therefore, further studies are needed to achieve optimal and personalized care. Close monitoring and frequent reassessment in a specialized center are key to adequate management.
我们报告了一例患有严重原发性纤毛运动障碍（PCD）表型且伴有罕见基因型的青少年病例。他的临床状况恶化，出现每日咳嗽、呼吸困难、低氧血症以及肺功能下降。尽管开始接受家庭无创通气（NIV）治疗，症状仍进展至静息时呼吸困难和胸痛。白天开始使用高流量鼻导管（HFNC）作为NIV的辅助治疗，并开始定期口服阿片类药物以控制疼痛和呼吸困难。舒适度明显改善，呼吸困难和呼吸功减轻。此外，还观察到运动耐量有所提高。他目前在肺移植等待名单上。我们旨在强调HFNC作为慢性呼吸困难管理的附加治疗的益处，因为我们的患者呼吸和运动耐量有所改善。然而，关于家庭使用HFNC的研究较少，尤其是在儿科年龄段。因此，需要进一步研究以实现最佳和个性化护理。在专业中心进行密切监测和频繁重新评估是妥善管理的关键。
