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肺间质糖原沉积症的诊断和临床过程:冰山一角。

Diagnostic and clinical course of pulmonary interstitial glycogenosis: The tip of the iceberg.

机构信息

Division of Pediatric Pulmonary, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts.

出版信息

Pediatr Pulmonol. 2018 Dec;53(12):1659-1661. doi: 10.1002/ppul.24167. Epub 2018 Sep 26.

DOI:10.1002/ppul.24167
PMID:30259700
Abstract

"Pulmonary Interstitial Glycogenosis: Diagnostic Evaluation and Clinical Course," written by Liptzin et al is a timely and insightful phenotypic summary of a rare pediatric interstitial lung disease. Twenty-four infants with biopsy-proven pulmonary interstitial glycogenosis (PIG) were reviewed at their center. Genetic analysis, bronchoscopy results, imaging, biopsy, and cardiology findings were described, and treatment decision and clinical outcomes were discussed.

摘要

《肺间质糖原沉积症:诊断评估和临床病程》一文由 Liptzin 等人撰写,内容及时且深入,对一种罕见的儿科间质性肺病进行了表型总结。该文回顾了其中心 24 例经活检证实的肺间质糖原沉积症(PIG)患儿。描述了基因分析、支气管镜检查结果、影像学、活检和心脏病学发现,并讨论了治疗决策和临床结局。

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