Ehsan Zarmina, Montgomery Gregory S, Tiller Christina, Kisling Jeffrey, Chang Daniel V, Tepper Robert S
Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana.
Pediatr Pulmonol. 2014 Mar;49(3):E17-20. doi: 10.1002/ppul.22738. Epub 2013 Feb 8.
Pulmonary interstitial glycogenosis (PIG) is an idiopathic interstitial lung disease of infants. The underlying pulmonary pathophysiology of PIG has not been well characterized. Herein we report a term-gestation infant who presented with persistent tachypnea and hypoxia. A chest CT scan demonstrated a diffuse ground glass appearance and lung biopsy demonstrated increased alveolar septae cellularity with glycogen-containing cells, consistent with a diagnosis of PIG. At 3 months of age, pulmonary function testing included: pre- and post-bronchodilator forced expiratory flows using the raised-volume technique and the ratio of pulmonary diffusing capacity for carbon monoxide to alveolar volume (DLCO /VA ). He was prescribed 5 days of oral prednisolone (2mg/kg/day) and pulmonary function testing (PFT) was repeated at 5, 13, and 20 months of age. Initial PFTs demonstrated reduced forced vital capacity (FVC: Z-score = -2.36) and an increased ratio of forced expiratory volume in 0.5 sec to FVC (FEV0.5/FVC: Z-score = 1.15) with no significant change following an inhaled bronchodilator. There was also a marked reduction in DLCO /VA (Z-score = -4.74) compared to age-matched controls. Follow-up demonstrated progressive clinical improvement as well as an increase in Z-FVC and normalization of DLCO /VA . Our in vivo physiological findings are consistent with previous reports that symptom resolution correlated with histological thinning of the alveolar septae upon repeat lung biopsy. The restrictive lung disease we observed is consistent with expected reduced compliance of an alveolar interstitial lung process like PIG, whereas the absence of a reduction in FEV0.5/FVC confirms the absence of obstructive airway disease.
肺间质糖原沉积症（PIG）是一种婴儿特发性间质性肺病。PIG潜在的肺部病理生理学特征尚未完全明确。在此，我们报告一名足月儿，表现为持续性呼吸急促和缺氧。胸部CT扫描显示弥漫性磨玻璃样外观，肺活检显示肺泡间隔细胞增多且含有糖原细胞，符合PIG的诊断。3个月大时，肺功能测试包括：使用增加容积技术测定支气管扩张剂前后的用力呼气流量，以及一氧化碳肺弥散量与肺泡容积之比（DLCO/VA）。给他开了5天的口服泼尼松龙（2mg/kg/天），并在5、13和20个月大时重复进行肺功能测试（PFT）。初始PFT显示用力肺活量降低（FVC：Z评分=-2.36），0.5秒用力呼气量与FVC之比增加（FEV0.5/FVC：Z评分=1.15），吸入支气管扩张剂后无显著变化。与年龄匹配的对照组相比，DLCO/VA也显著降低（Z评分=-4.74）。随访显示临床逐渐改善，Z-FVC增加，DLCO/VA恢复正常。我们的体内生理学发现与先前的报道一致，即症状缓解与重复肺活检时肺泡间隔的组织学变薄相关。我们观察到的限制性肺病与预期的肺泡间质肺疾病（如PIG）的顺应性降低一致，而FEV0.5/FVC没有降低证实不存在阻塞性气道疾病。
