先天性肺部畸形。

IF 76.9 1区 医学 Q1 MEDICINE, GENERAL & INTERNAL Nature Reviews Disease Primers Pub Date : 2023-11-02 DOI:10.1038/s41572-023-00470-1
Federica Pederiva, Steven S Rothenberg, Nigel Hall, Hanneke Ijsselstijn, Kenneth K Y Wong, Jan von der Thüsen, Pierluigi Ciet, Reuven Achiron, Adamo Pio d'Adamo, J Marco Schnater
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引用次数: 0

摘要

先天性肺畸形(CLMs)是一种罕见的肺部发育异常,包括先天性肺气道畸形(CPAM)、支气管肺隔离、先天性肺叶过度膨胀、支气管源性囊肿和孤立性先天性支气管闭锁。CLMs发生在每10000个活产中的4个。产后表现从无症状婴儿到呼吸衰竭。CLM通常通过产前超声检查进行诊断,并在生命的最初几个月通过胸部CT血管造影术进行确认。尽管手术治疗是有症状CLM的金标准,但对无症状病例尚未达成共识。通过胸腔镜或开胸切除,可以最大限度地降低局部发病的风险,包括复发性感染和肺气肿,并避免了与CPAM、支气管肺隔离和支气管源性囊肿相关的恶性肿瘤的风险。然而,一些外科医生建议进行预期治疗,因为包括恶性肿瘤在内的不良后果的发生率仍然未知。无论哪种情况,都需要有计划的后续行动和向成人护理的适当过渡。一些CLM可能引发恶性转化的生物学机制正在研究中。KRAS已经被证实在CPAM中发生了身体突变,并且已经探索了与肿瘤发展相关的其他遗传易感性。通过总结CLM诊断、管理和分子理解方面的最新进展,我们希望突出需要迫切关注的悬而未决的问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Congenital lung malformations.

Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst and isolated congenital bronchial atresia. CLMs occur in 4 out of 10,000 live births. Postnatal presentation ranges from an asymptomatic infant to respiratory failure. CLMs are typically diagnosed with antenatal ultrasonography and confirmed by chest CT angiography in the first few months of life. Although surgical treatment is the gold standard for symptomatic CLMs, a consensus on asymptomatic cases has not been reached. Resection, either thoracoscopically or through thoracotomy, minimizes the risk of local morbidity, including recurrent infections and pneumothorax, and avoids the risk of malignancies that have been associated with CPAM, bronchopulmonary sequestration and bronchogenic cyst. However, some surgeons suggest expectant management as the incidence of adverse outcomes, including malignancy, remains unknown. In either case, a planned follow-up and a proper transition to adult care are needed. The biological mechanisms through which some CLMs may trigger malignant transformation are under investigation. KRAS has already been confirmed to be somatically mutated in CPAM and other genetic susceptibilities linked to tumour development have been explored. By summarizing current progress in CLM diagnosis, management and molecular understanding we hope to highlight open questions that require urgent attention.

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来源期刊
Nature Reviews Disease Primers
Nature Reviews Disease Primers Medicine-General Medicine
CiteScore
76.70
自引率
0.20%
发文量
75
期刊介绍: Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.
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