Dutilleux Tanguy, Farhat Nesrine, Heying Ruth, Seghaye Marie-Christine, Beghetti Maurice
Department of Pediatric Cardiology, University Hospital Aachen, 52074 Aachen, Germany.
Department of Pediatric Cardiology, Centre Hospitalier Universitaire de Liège, 4000 Liège, Belgium.
Pediatr Rep. 2023 May 5;15(2):301-310. doi: 10.3390/pediatric15020026.
Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and severe disease. We report the case of a 7-year-old boy investigated for cardiac murmur and exercise intolerance. Pulmonary hypertension (PH) was suspected at clinical examination and confirmed by echocardiography and cardiac catheterization. This case of pulmonary hypertension was classified as idiopathic given the negative etiological investigation. Vasoreactive testing with oxygen and nitric oxide was negative. Therefore, treatment with sildenafil (1.4 mg/kg/d) and bosentan (3 mg/kg/d) was initiated. This allowed the stabilization of, but not a decrease in, pulmonary artery pressure for the next 5 years, during which the patient's quality of life was significantly reduced. At a later follow-up, the estimated pulmonary pressure was found to have increased and become supra-systemic, with a consequent deterioration in the child's condition. This led to the decision to enter him into a clinical trial that is still ongoing. Idiopathic pulmonary arterial hypertension is a severe disease that can present with non-specific symptoms, such as asthenia and exercise limitation, which are important not to trivialize. The disease is associated with significantly decreased quality of life in affected children and carries a high burden in terms of mortality and morbidity. The current knowledge about IPAH in children is reviewed, with a particular focus on the future prospects for its treatment and the related quality of life of patients.
特发性肺动脉高压（IPAH）是一种罕见的严重疾病。我们报告一例7岁男孩，因心脏杂音和运动不耐受接受检查。临床检查怀疑有肺动脉高压（PH），经超声心动图和心导管检查确诊。鉴于病因学检查结果为阴性，该例肺动脉高压被归类为特发性。吸氧和一氧化氮的血管反应性测试为阴性。因此，开始使用西地那非（1.4毫克/千克/天）和波生坦（3毫克/千克/天）进行治疗。在接下来的5年里，这使得肺动脉压力得以稳定，但并未降低，在此期间患者的生活质量显著下降。在后来的随访中，发现估计的肺动脉压力升高并超过体循环压力，导致患儿病情恶化。这促使决定让他参加一项仍在进行的临床试验。特发性肺动脉高压是一种严重疾病，可表现为非特异性症状，如乏力和运动受限，对此不可轻视。该疾病与受影响儿童的生活质量显著下降相关，在死亡率和发病率方面负担沉重。本文综述了目前关于儿童IPAH的知识，特别关注其治疗的未来前景及患者的相关生活质量。
