Lee Fu-Shiuan, Yen Hsiu-Ju, Niu Dau-Ming, Hung Giun-Yi, Lee Chih-Ying, Yeh Yi-Chen, Chen Paul Chih-Hsueh, Chang Sheng-Kai, Yang Chia-Feng
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Mol Genet Metab Rep. 2020 Oct 20;25:100652. doi: 10.1016/j.ymgmr.2020.100652. eCollection 2020 Dec.
To provide strategies for monitoring and treating severe lung involvement in Gaucher disease.
We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic stem cell transplant (HSCT), along with other case studies reported before December 2019. He was diagnosed with GD (homozygous mutation at c.1448 T > C, p.L483P), and started receiving enzyme replacement therapy (ERT) at 17 months old. He developed respiratory distress symptoms after 45 months of ERT; chest imaging reported diffuse interstitial infiltration of the bilateral lungs and consolidations at the right lungs. Allogeneic HSCT using cells from a matched unrelated donor was performed four months upon progressive respiratory symptoms.
His respiratory symptoms subsided in one month; chest imaging improvement, pulmonary function test improvement, and normalized activity of β-glucocerebrosidase were reported in three months.
This is the first report of a patient who received early and regular ERT but developed severe infiltrative lung involvement and recovered after allogeneic HSCT. Based on study results, we suggest regular chest imaging, even for asymptomatic patients. For patients with severe lung involvement, rapid deterioration, and unresponsive to higher ERT dosages, allogeneic HSCT should be considered.
提供监测和治疗戈谢病严重肺部受累的策略。
我们回顾了一名5岁男孩的病历，该男孩出现了戈谢病（GD）快速进展的严重浸润性肺部受累，并在异基因造血干细胞移植（HSCT）后病情改善，同时回顾了2019年12月之前报道的其他病例研究。他被诊断为GD（c.1448 T>C，p.L483P纯合突变），17个月大时开始接受酶替代疗法（ERT）。ERT治疗45个月后出现呼吸窘迫症状；胸部影像学报告显示双肺弥漫性间质浸润，右肺有实变。在出现进行性呼吸症状4个月后，使用匹配的无关供体的细胞进行了异基因HSCT。
他的呼吸症状在1个月内消退；3个月时报告胸部影像学改善、肺功能测试改善以及β-葡萄糖脑苷脂酶活性恢复正常。
这是首例接受早期和常规ERT但出现严重浸润性肺部受累并在异基因HSCT后康复的患者报告。根据研究结果，我们建议即使是无症状患者也应定期进行胸部影像学检查。对于严重肺部受累、病情迅速恶化且对更高ERT剂量无反应的患者，应考虑异基因HSCT。
