Ludwig-Maximilians-University, Department of Pneumology, Germany.
Medical School Hannover, Department of Pneumology, Germany.
Respir Med. 2018 Jul;140:11-20. doi: 10.1016/j.rmed.2018.05.009. Epub 2018 May 17.
Pulmonary interstitial glycogenosis (PIG) is a rare paediatric interstitial lung disease of unknown cause. The diagnosis can only be made by lung biopsy. Less than 100 cases have been reported. Clinical features, treatment and outcomes have rarely been assessed systematically in decent cohorts of patients.
In this retrospective multicentre study, the clinical presentation, radiologic findings, pattern of lung biopsy, extrapulmonary comorbidities, treatment and outcome of eleven children with PIG were collected systematically.
10/11 children presented with respiratory distress immediatly after birth and 8/11 needed invasive ventilation. In 8/11 children extrapulmonary comorbidities were present, congenital heart defects being the most common. 7/11 children received systemic glucocorticoids and of these four showed a clear favorable response. During a median follow-up of 3.0 years (range 0.42-12.0) one child died, while 10 patients improved. Chest CT-scans showed ground-glass opacities (7/10), consolidations (6/10), linear opacities (5/10) and mosaic attenuation (4/10) without uniform pattern. Besides interstitial thickening related to undifferentiated glycogen positive mesenchymal cells all tissue samples showed growth abnormalities with reduced alveolarization.
PIG is associated with alveolar growth abnormalities and has to be considered in all newborns with unexplained respiratory distress. Apparent treatment benefit of glucocorticosteroids needs to be evaluated systematically.
肺间质糖原沉积症（PIG）是一种罕见的儿科间质性肺病，病因不明。只有通过肺活检才能确诊。不到 100 例病例被报道。在适当的患者队列中，很少有系统地评估过其临床特征、治疗和结局。
在这项回顾性多中心研究中，系统性地收集了 11 例 PIG 患儿的临床表现、影像学表现、肺活检模式、肺外合并症、治疗和结局。
11 例患儿中有 10 例在出生后立即出现呼吸窘迫，8 例需要有创通气。8 例患儿存在肺外合并症，其中先天性心脏病最常见。11 例患儿中有 7 例接受了全身糖皮质激素治疗，其中 4 例患儿的反应明显较好。在中位数为 3.0 年（范围 0.42-12.0）的随访中，有 1 例患儿死亡，而 10 例患儿病情改善。胸部 CT 扫描显示磨玻璃影（7/10）、实变（6/10）、线性影（5/10）和马赛克衰减（4/10），无统一模式。除了与未分化的糖原阳性间充质细胞有关的间质增厚外，所有组织样本均显示出肺泡化减少的生长异常。
PIG 与肺泡生长异常有关，应在所有不明原因呼吸窘迫的新生儿中考虑。糖皮质激素的明显治疗益处需要系统评估。
