Neonatology, CHU Nancy, Nancy, France
Genetics, CHU Saint-Étienne, Saint-Priest-en-Jarez, France.
Arch Dis Child Fetal Neonatal Ed. 2020 Jul;105(4):387-392. doi: 10.1136/archdischild-2019-317121. Epub 2019 Oct 22.
Alveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed.
A retrospective observational study was conducted in French hospitals. Patients born between 2005 and 2017, whose biological samples were sent to the French genetic reference centres, were included. Clinical, histological and genetic data were retrospectively collected.
We presented a series of 21 patients. The mean of postmenstrual age at birth was 37.6 weeks. The first symptoms appeared on the median of 2.5 hours. Pulmonary hypertension was diagnosed in 20 patients out of 21. Two cases had prolonged survival (3.3 and 14 months). Histological analysis was done on lung tissue from autopsy (57.1% of cases) or from percutaneous biopsy (28.6%). was found abnormal in 15 patients (71.4%): 8 deletions and 7 point mutations. Two deletions were found by chromosomal microarray.
This study is one of the largest clinically described series in literature. It seems crucial to integrate genetics early into diagnostic support. We propose a diagnostic algorithm for helping medical teams to improve diagnosis of this pathology.
肺泡毛细血管发育不良（ACD）是肺动脉高压的原因之一。其诊断为组织学诊断，但出现了新的发病机制数据。本研究的目的是描述法国的 ACD 患者队列，以提高对该病理学的理解和诊断，该病理学可能被低估。
在法国医院进行了回顾性观察性研究。纳入 2005 年至 2017 年期间出生，生物样本被送往法国遗传参考中心的患者。回顾性收集临床、组织学和遗传数据。
我们呈现了一系列 21 例患者。出生时的平均孕龄为 37.6 周。首发症状出现在中位 2.5 小时。21 例患者中有 20 例诊断为肺动脉高压。2 例患者存活时间延长（3.3 和 14 个月）。组织学分析是在尸检肺组织（57.1%的病例）或经皮活检（28.6%）上进行的。15 例患者（71.4%）存在异常：8 例缺失和 7 例点突变。2 例缺失通过染色体微阵列发现。
本研究是文献中临床描述最大的系列之一。早期将遗传学纳入诊断支持似乎至关重要。我们提出了一个诊断算法，帮助医疗团队提高对该病理学的诊断。
