Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course
Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course
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DOI：
10.1002/ppul.24123
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发表时间：
2018-12-01
影响因子：
3.1
通讯作者：
Deterding, Robin R.
中科院分区：
文献类型：
--
作者：
Liptzin, Deborah R.;Baker, Christopher D.;Deterding, Robin R.
目的：我们试图描述P.I.G.患者的表型。包括表现、评估、心脏合并症、高分辨率计算机断层扫描结果和结局。方法结果在机构审查委员会的批准下，我们对活检证实的P.I.G.患者进行了回顾性分析。活检、高分辨率胸部计算机断层扫描和心脏评估由每个领域的专家进行审查和表征。62%的患者是男性。中位孕龄为37周（范围27-40周）。活检时的中位年龄为1.6个月（范围0.3-6个月）。63%的患者存在结构性心脏病。在38%的患者中观察到肺动脉高压（通过超声心动图和/或心导管检查诊断）。79%的患者存在肺泡简化。50%的活组织检查显示为斑片状病变。活检时年龄的增加与斑片状（与弥漫性）疾病相关。92%的患者接受了全身性皮质类固醇治疗。末次随访时的中位年龄为1234天，范围为37天至15岁。在最后一次随访时，12名患者停止了所有支持，8名患者接受了辅助供氧，2名患者接受了机械通气，1名患者接受了肺移植，1名患者死亡。CT主要表现为磨玻璃影（86%）和囊性变（50%）。结论P.I.G.表型尚未得到全面描述，对P.I.G.坚持。P.I.G.是一种在婴儿早期出现的疾病，需要大量的医疗干预，并且经常与肺泡简化和/或心血管疾病相关。CT表现包括磨玻璃影和囊肿。应监测患者的肺动脉高压。没有危及生命的合并症，许多患者随着时间的推移表现良好，尽管呼吸道症状可能持续到青春期。
Objectives We sought to describe the phenotype for patients with P.I.G. including presentation, evaluation, cardiac co-morbidities, high resolution computed tomography findings, and outcomes. Methods Results With institutional review board approval, we performed a retrospective review of patients with biopsy-proven P.I.G. Biopsies, high resolution chest computed tomography, and cardiac evaluations were reviewed and characterized by experts in each field. Sixty-two percent of the patients were male. The median gestational age was 37 weeks (range 27-40). The median age at biopsy was 1.6 months (range 0.3-6 months). Structural heart disease was present in 63% of patients. Pulmonary hypertension (diagnosed by echocardiogram and/or cardiac catheterization) was noted in 38% of patients. Alveolar simplification was present in 79% of patients. Fifty percent of available biopsies revealed patchy disease. An increase in age at biopsy was associated with patchy (vs diffuse) disease. Ninety-two percent of patients were treated with systemic corticosteroids. Median age at last follow-up was 1234 days with a range of 37 days to 15 years. At the time of last follow-up, 12 patients were off all support, eight were on supplemental oxygen, two were mechanically ventilated, one underwent lung transplantation, and one died. CT findings commonly included ground glass opacities (86%) and cystic change (50%). Conclusions The P.I.G. phenotype has not been comprehensively described, and poor recognition and misconceptions about P.I.G. persist. P.I.G. is a disease that presents in early infancy, requires significant medical intervention, and frequently is seen in association with alveolar simplification and/or cardiovascular disease. CT findings include ground glass opacities and cysts. Patients should be monitored for pulmonary hypertension. Without life-threatening comorbidities, many patients do well over time, although respiratory symptoms may persist into adolescence.