西罗莫司治疗儿童弥漫性肺淋巴管瘤病1例报告

doi:10.12372/jcp.2025.24e0399

摘要/Abstract

摘要：

目的探讨儿童弥漫性肺淋巴管瘤病的临床特征与诊疗策略，以提高早期诊断与治疗水平，改善患儿预后。方法回顾性分析我院呼吸科收治的1例弥漫性肺淋巴管瘤病患儿的临床资料，总结其临床特点、诊疗过程，并结合相关文献，探讨该病的综合治疗方案及预后。结果该患儿接受西罗莫司口服治疗3年，临床症状显著缓解，胸部影像学检查提示明显改善。结论西罗莫司治疗儿童弥漫性肺淋巴管瘤病疗效确切，不良反应少，有助于改善患儿远期预后。

关键词: 弥漫性肺淋巴管瘤病, 西罗莫司, 儿童

Abstract:

Objective To explore the clinical characteristics and treatment strategies of diffuse pulmonary lymphangiomatosis in children, in order to improve the early diagnosis and treatment level and the prognosis of children. Methods The clinical data of a child with diffuse pulmonary lymphangiomatosis admitted to the respiratory department of our hospital were retrospectively analyzed. The clinical manifestations, diagnostic process, and treatment outcomes were systematically summarized. Furthermore, current comprehensive treatment options and prognostic factors were discussed in light of relevant literature. Results The child received sirolimus treatment for 3 years, and the clinical symptoms were significantly relieved. Chest CT showed significant improvement. Conclusion Sirolimus demonstrates promising therapeutic efficacy in the management of diffuse pulmonary lymphangiomatosis in children, with a favorable safety profile and the potential to significantly enhance long-term prognosis.

Key words: diffuse pulmonary lymphangiomatosis, sirolimus, child

中图分类号:

叶泽慧, 姜小丽. 西罗莫司治疗儿童弥漫性肺淋巴管瘤病1例报告[J]. 临床儿科杂志, 2025, 43(9): 705-709.

YE Zehui, JIANG Xiaoli. A case report of sirolimus in the treatment of diffuse pulmonary lymphangiomatosis in children[J]. Journal of Clinical Pediatrics, 2025, 43(9): 705-709.

图/表 6

图1

图2

表1

图3

图4

表2

参考文献 24

[1]	沈秋英, 农光民, 顾永耀. 儿童弥漫性肺淋巴管瘤病二例[J]. 中华儿科杂志, 2016, 54(10): 781-782.
	Shen QY, Nong GM, Gu YY. Two cases of diffuse pulmonary lymphangioma in children[J]. Zhonghua Erke Zazhi, 2016, 54(10): 781-782.
[2]	Ernotte C, Médart L, Collignon L. Diffuse pulmonary lymphangiomatosis[J]. J Belg Soc Radiol, 2018, 102(1): 64. doi: 10.5334/jbsr.1603 pmid: 30324183
[3]	Gurskytė V, Zeleckienė I, Maskoliūnaitė V, et al. Successful treatment of diffuse pulmonary lymphangiomatosis with sirolimus[J]. Respir Med Case Rep, 2020, 29: 101014.
[4]	Triana P, Dore M, Cerezo VN, et al. Sirolimus in the treatment of vascular anomalies[J]. Eur J Pediatr Surg, 2017, 27(1): 86-90. doi: 10.1055/s-0036-1593383 pmid: 27723921
[5]	Luisi F, Torre O, Harari S. Thoracic involvement in generalised lymphatic anomaly (or lymphangiomatosis)[J]. Eur Respir Rev, 2016, 25(140): 170-177. doi: 10.1183/16000617.0018-2016 pmid: 27246594
[6]	Zheng G, Tang H, Su R, et al. A gene missense mutation in diffuse pulmonary lymphangi- omatosis with thrombocytopenia: a case report[J]. Medicine (Baltimore), 2020, 99(39): e21941.
[7]	Faul JL, Berry GJ, Colby TV, et al. Thoracic lymphangiomas, lymphangiectasis, lymphangiomatosis, and lymphatic dysplasia syndrome[J]. Am J Respir Crit Care Med, 2000, 161(3Pt 1): 1037-1046.
[8]	Moreno RP, Hernández Y, Garrido P, et al. Diffuse pulmonary lymphangiomatosis with pleural and pericardial involvement. Pediatric case report[J]. Arch Argent Pediatr, 2021, 119(3): e264-e268.
[9]	Liu JR, Shen WB, Wen Z, et al. Clinical analysis of two cases with diffuse pulmonary lymphatic disease[J]. Zhonghua Erke Zazhi, 2016, 54(5): 360-364.
[10]	Ricci KW, Iacobas I. How we approach the diagnosis and management of complex lymphatic anomalies[J]. Pediatr Blood Cancer, 2022, 69(Suppl 3): e28985.
[11]	曾祥妮, 吴爱民, 李岚, 等. 一例弥漫性肺淋巴管瘤病支气管镜下表现及分析[J]. 临床儿科杂志, 2024, 42(12): 1047-1050..
	Zeng XN, Wu AM, Li L, et al. A case report of a rare case of diffuse pulmonary lymphangiomatosis with bronchoscopic presentation[J]. Linchuang Erke Zazhi, 2024, 42(12): 1047-1050.
[12]	Sun X, Shen W, Xia S, et al. Diffuse pulmonary lymphangiomatosis: MDCT findings after direct lymphangiography[J]. AJR Am J Roentgenol, 2017, 208(2): 300-305.
[13]	潘登, 丛金鹏, 王芳芳, 等. 弥漫性肺淋巴管瘤病二例报[J]. 临床医学进展, 2020, 10(7): 1397-1404.
	Pan D, Cong JP, Wang FF, et al. Diffuse pulmonary lymphangiomatosis: report of two cases[J]. Linchuang Yixue Jinzhan, 2020, 10(7): 1397-1404.
[14]	Biscotto I, Rodrigues RS, Forny DN, et al. Diffuse pulmonary lymphangiomatosis[J]. J Bras Pneumol, 2019, 45(5): e20180412.
[15]	Lim HJ, Han J, Kim HK, et al. A rare case of diffuse pulmonary lymphangiomatosis in a middle-aged woman[J]. Korean J Radiol, 2014, 15(2): 295-299.
[16]	Ozeki M, Nozawa A, Yasue S, et al. The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies[J]. Orphanet J Rare Dis, 2019, 14(1): 141. doi: 10.1186/s13023-019-1118-1 pmid: 31196128
[17]	Ricci KW, Hammill AM, Mobberley-Schuman P, et al. Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease[J]. Pediatr Blood Cancer, 2019, 66(5): e27614.
[18]	Rodriguez-Laguna L, Agra N, Ibañez K, et al. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly[J]. J Exp Med, 2019, 216(2): 407-418. doi: 10.1084/jem.20181353
[19]	Reinglas J, Ramphal R, Bromwich M. The successful management of diffuse lymphangio matosis using sirolimus: a case report[J]. Laryngoscope, 2011, 121(9): 1851-1854.
[20]	Sun X, Lu C, Huang Z, et al. Diagnosis and treatment of diffuse pulmonary lymphangioma in children: a case report[J]. Exp Ther Med, 2023, 25(4): 175. doi: 10.3892/etm.2023.11874 pmid: 37006871
[21]	Dimiene I, Bieksiene K, Zaveckiene J, et al. Effective initial treatment of diffuse pulmonary lymphangiomatosis with sirolimus and propranolol: a case report[J]. Medicina (Kaunas), 2021, 57(12): 1308.
[22]	Amodeo I, Colnaghi M, Raffaeli G, et al. The use of sirolimus in the treatment of giant cystic lymphangioma: four case reports and update of medical therapy[J]. Medicine (Baltimore), 2017, 96(51): e8871.
[23]	Ferrara N. Vascular endothelial growth factor: basic science and clinical progress[J]. Endocr Rev, 2004, 25(4): 581-611. doi: 10.1210/er.2003-0027 pmid: 15294883
[24]	Onyeforo E, Barnett A, Zagami D, et al. Diffuse pulmonary lymphangiomatosis treated with bevacizumab[J]. Respirol Case Rep, 2018, 7(1): e00384.

治疗时间/月	血药浓度/ng·mL^-1	西罗莫司剂量调整
治疗3个月	5.30	0.75 mg，qd
治疗6个月	5.75	0.75 mg，qd
治疗12个月	3.00	1 mg，qd
治疗15个月	6.16	1 mg，qd
治疗18个月	4.16	0.7 mg，bid
治疗24个月	8.10	1 mg，qd
治疗35个月	6.52	停药

治疗时间/月	囊性病变大小/cm	体积/cm³
治疗前	6.3×4.2×3.7	97.9
治疗3个月	4.7×4.3×2.2	44.46
治疗6个月	4.0×2.4×2.1	20.16
治疗12个月	3.9×2.7×1.5	15.79
治疗24个月	3.5×2.4×1.8	15.12
治疗35个月	3.5×2.3×1.6	12.88