Department of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Department of Interventional Radiology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Pediatr Allergy Immunol Pulmonol. 2021 Mar;34(1):30-32. doi: 10.1089/ped.2020.1244.
Niemann-Pick disease (NPD) is caused by abnormal storage of sphingomyelin. NPD may affect the pulmonary system and cause hypoxia. In the present case, both hepatopulmonary syndrome (HPS) and pulmonary arteriovenous fistulas (PAVFs) developed in a child with NPD and were successfully treated with repeated embolization. We have reported the case of a 16-year-old-girl with NPD who suffered severe hypoxia, dyspnea, fatigue, had multiple PAVFs, and was diagnosed with type 2 HPS. To improve oxygenation, 10 PAVFs were embolized. She needed re-embolization after 9 months because of hypoxia redevelopment. Pulmonary involvement, HPS, and/or PAVFs could be responsible for hypoxemia in patients with NPD, who should, therefore, be investigated for HPS and PAVFs. Embolization could be beneficial. Some patients may need repeated embolization.
尼曼-匹克病（Niemann-Pick disease，NPD）是由鞘磷脂异常储存引起的。NPD 可能影响肺部系统并导致缺氧。在本病例中，一名 NPD 患儿同时发生了肝肺综合征（hepatopulmonary syndrome，HPS）和肺动静脉瘘（pulmonary arteriovenous fistulas，PAVFs），经多次栓塞治疗后均得到成功缓解。我们报告了一例 16 岁的 NPD 女性患者，其严重缺氧、呼吸困难、乏力、存在多个 PAVFs，并被诊断为 2 型 HPS。为改善氧合，对 10 个 PAVFs 进行了栓塞治疗。9 个月后因再次出现缺氧，患者需要再次栓塞治疗。NPD 患者的低氧血症可能由肺部受累、HPS 和/或 PAVFs 引起，因此，应针对 HPS 和 PAVFs 对患者进行检查。栓塞治疗可能有益，部分患者可能需要重复栓塞治疗。
