Department of Pediatrics, Division of Pulmonology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Eur Respir J. 2024 Sep 26;64(3). doi: 10.1183/13993003.00639-2024. Print 2024 Sep.
It is increasingly recognised that diverse genetic respiratory disorders present as severe pulmonary hypertension (PH) in the neonate and young infant, but many controversies and uncertainties persist regarding optimal strategies for diagnosis and management to maximise long-term outcomes. To better define the nature of PH in the setting of developmental lung disease (DEVLD), in addition to the common diagnoses of bronchopulmonary dysplasia and congenital diaphragmatic hernia, we established a multidisciplinary group of expert clinicians from stakeholder paediatric specialties to highlight current challenges and recommendations for clinical approaches, as well as counselling and support of families. In this review, we characterise clinical features of infants with DEVLD/DEVLD-PH and identify decision-making challenges including genetic evaluations, the role of lung biopsies, the use of imaging modalities and treatment approaches. The importance of working with team members from multiple disciplines, enhancing communication and providing sufficient counselling services for families is emphasised to create an interdisciplinary consensus.
人们越来越认识到，多种遗传呼吸系统疾病会在新生儿和婴儿期表现为严重的肺动脉高压（PH），但在诊断和管理方面，仍存在许多争议和不确定性，以最大限度地提高长期预后。为了更好地定义发育性肺疾病（DEVLD）背景下 PH 的性质，除了常见的支气管肺发育不良和先天性膈疝诊断外，我们还成立了一个由利益相关儿科专业的多学科专家小组，重点介绍临床方法的当前挑战和建议，以及对家庭的咨询和支持。在这篇综述中，我们描述了患有 DEVLD/DEVLD-PH 的婴儿的临床特征，并确定了决策挑战，包括基因评估、肺活检的作用、影像学模式的使用和治疗方法。强调与来自多个学科的团队成员合作、加强沟通以及为家庭提供足够的咨询服务以达成跨学科共识的重要性。
