儿童血小板增多症诊治进展

徐雨婷; 胡群

doi:10.7499/j.issn.1008-8830.2408066

PDF(548 KB)

HTML

中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (2) : 236-241. DOI: 10.7499/j.issn.1008-8830.2408066

综述

儿童血小板增多症诊治进展

徐雨婷, 胡群

作者信息 +

Advances in the diagnosis and treatment of thrombocytosis in children

XU Yu-Ting, HU Qun

Author information +

文章历史 +

摘要

血小板增多症是儿科的常见疾病，包括原发性和继发性两类。继发性常由感染、贫血、缺铁、外伤或手术等引起，一般无严重血栓形成或出血事件发生。原发因素控制后血小板计数多可恢复正常，临床过程及结局良好。原发性由骨髓增生性肿瘤如真性红细胞增多症、原发性血小板增多症、骨髓纤维化等引起，常伴有造血细胞基因突变。临床表现相较于成人不典型，血栓栓塞及出血事件少见。无症状或症状轻微者一般无需特殊治疗，建议定期监测血小板数值。有血栓形成风险或血小板极度增多者可以考虑使用阿司匹林抗血小板治疗，必要时进行降细胞治疗，但需密切监测药物毒副作用。目前常用的降细胞药物包括羟基脲、干扰素α、阿那格雷等。该文通过介绍儿童血小板增多症的病因及分类、临床表现、诊断及治疗，旨在进一步为临床医师提供治疗决策。

Abstract

Thrombocytosis is a common condition in children, classified into primary and secondary types. Secondary thrombocytosis is mainly caused by factors such as infection, anemia, iron deficiency, trauma, or surgical intervention, and it typically occurs without severe thrombosis or bleeding events. Platelet counts can return to normal after control of the primary factors, with favorable clinical outcomes. Primary thrombocytosis is mainly caused by myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and myelofibrosis, often accompanied by gene mutations in hematopoietic cells. In children, clinical manifestations are atypical compared to adults, with few thromboembolic or bleeding events. No special treatment is required for patients who are asymptomatic or have mild symptoms, and it is recommended to regularly monitor platelet counts. Antiplatelet therapy with aspirin can be considered for patients at risk of thrombosis or those with extreme thrombocytosis, and cytoreductive therapy can be performed when necessary, but the toxicities and side effects of drugs should be closely monitored. At present, hydroxyurea, interferon-alpha, and anagrelide are commonly used for cytoreductive therapy. This article provides an overview of the etiology, classification, clinical manifestations, diagnosis, and treatment of childhood thrombocytosis to guide healthcare professionals in treatment decisions.

导出引用

徐雨婷, 胡群. 儿童血小板增多症诊治进展[J]. 中国当代儿科杂志. 2025, 27(2): 236-241 https://doi.org/10.7499/j.issn.1008-8830.2408066

XU Yu-Ting, HU Qun. Advances in the diagnosis and treatment of thrombocytosis in children[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(2): 236-241 https://doi.org/10.7499/j.issn.1008-8830.2408066

参考文献

1 Van Den Helm S, McCafferty C, Letunica N, et al. Platelet function in neonates and children[J]. Thromb Res, 2023, 231: 236-246. PMID: 36997443. DOI: 10.1016/j.thromres.2023.03.005.
2 Kaushansky K. Thrombopoietin and its receptor in normal and neoplastic hematopoiesis[J]. Thromb J, 2016, 14(Suppl 1): 40. PMID: 27766065. PMCID: PMC5056461. DOI: 10.1186/s12959-016-0095-z.
3 栾皓, 邢爽, 余祖胤. 血小板生成素调控机体造血免疫的研究进展[J]. 安徽医科大学学报, 2023, 58(3): 519-522. DOI: 10.19405/j.cnki.issn1000-1492.2023.03.030.
4 Xu WH, Mo LC, Shi MH, et al. Correlation between thrombopoietin and inflammatory factors, platelet indices, and thrombosis in patients with sepsis: a retrospective study[J]. World J Clin Cases, 2022, 10(13): 4072-4083. PMID: 35665097. PMCID: PMC9131241. DOI: 10.12998/wjcc.v10.i13.4072.
5 Putti MC, Bertozzi I, Randi ML. Essential thrombocythemia in children and adolescents[J]. Cancers (Basel), 2021, 13(23): 6147. PMID: 34885256. PMCID: PMC8656963. DOI: 10.3390/cancers13236147.
6 Dame C, Sutor AH. Primary and secondary thrombocytosis in childhood[J]. Br J Haematol, 2005, 129(2): 165-177. PMID: 15813844. DOI: 10.1111/j.1365-2141.2004.05329.x.
7 Zierk J, Arzideh F, Rechenauer T, et al. Age- and sex-specific dynamics in 22 hematologic and biochemical analytes from birth to adolescence[J]. Clin Chem, 2015, 61(7): 964-973. PMID: 25967371. DOI: 10.1373/clinchem.2015.239731.
8 Stockklausner C, Duffert CM, Cario H, et al. Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management[J]. Ann Hematol, 2021, 100(7): 1647-1665. PMID: 33712866. PMCID: PMC8195939. DOI: 10.1007/s00277-021-04485-0.
9 Ianotto JC, Curto-Garcia N, Lauermanova M, et al. Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review[J]. Haematologica, 2019, 104(8): 1580-1588. PMID: 30679326. PMCID: PMC6669170. DOI: 10.3324/haematol.2018.200832.
10 Rokkam VR, Killeen RB, Kotagiri R. Secondary Thrombocytosis[M]//StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2024.
11 Thom CS, Echevarria E, Osborne AD, et al. Extreme thrombocytosis is associated with critical illness and young age, but not increased thrombotic risk, in hospitalized pediatric patients[J]. J Thromb Haemost, 2020, 18(12): 3352-3358. PMID: 32979018. PMCID: PMC7855272. DOI: 10.1111/jth.15103.
12 王莉, 刘爱国, 王雅琴, 等. 儿童继发性血小板增多症386例临床分析[J]. 临床儿科杂志, 2024, 42(5): 425-428. DOI: 10.12372/jcp.2024.23e0156.
13 Babacan A, ?enol FF. Thrombocytosis in children[J]. Rev Assoc Med Bras (1992), 2023, 69(6): e20230020. PMID: 37255084. PMCID: PMC10234358. DOI: 10.1590/1806-9282.20230020.
14 Subramaniam N, Mundkur S, Kini P, et al. Clinicohematological study of thrombocytosis in children[J]. ISRN Hematol, 2014, 2014: 389257. PMID: 25006474. PMCID: PMC4004071. DOI: 10.1155/2014/389257.
15 Jeon GW. Pathophysiology, classification, and complications of common asymptomatic thrombocytosis in newborn infants[J]. Clin Exp Pediatr, 2022, 65(4): 182-187. PMID: 34665959. PMCID: PMC8990953. DOI: 10.3345/cep.2021.00864.
16 Tefferi A, Vannucchi AM, Barbui T. Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management[J]. Am J Hematol, 2024, 99(4): 697-718. PMID: 38269572. DOI: 10.1002/ajh.27216.
17 Ashorobi D, Gohari P. Essential Thrombocytosis[M]//StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2023.
18 Gangat N, Karrar O, Al-Kali A, et al. One thousand patients with essential thrombocythemia: the Mayo Clinic experience[J]. Blood Cancer J, 2024, 14(1): 11. PMID: 38238303. PMCID: PMC10796913. DOI: 10.1038/s41408-023-00972-x.
19 Liu Y, Wang Y, Huang G, et al. The role of leukocytes in myeloproliferative neoplasm thromboinflammation[J]. J Leukoc Biol, 2024, 115(6): 1020-1028. PMID: 38527797. DOI: 10.1093/jleuko/qiae071.
20 Tashkandi H, Younes IE. Advances in molecular understanding of polycythemia vera, essential thrombocythemia, and primary myelofibrosis: towards precision medicine[J]. Cancers (Basel), 2024, 16(9): 1679. PMID: 38730632. PMCID: PMC11083661. DOI: 10.3390/cancers16091679.
21 Bussel J, Kucine N. Familial thrombocythaemia: a distinct entity from essential thrombocythaemia[J]. Br J Haematol, 2021, 194(5): 808-809. PMID: 34340263. PMCID: PMC8500324. DOI: 10.1111/bjh.17701.
22 Müller J, Porret NA, Rüfer A. Identification of a JAK2 FERM domain variant associated with hereditary thrombocytosis[J]. HemaSphere, 2021, 5(8): e626. PMID: 34350386. PMCID: PMC8328242. DOI: 10.1097/HS9.0000000000000626.
23 Shin J, Lee DH, Jung N, et al. A cross-sectional retrospective study to analyze the underlying causes and clinical characteristics of children with reactive thrombocytosis at a Korean tertiary medical center[J]. Blood Res, 2018, 53(3): 233-239. PMID: 30310791. PMCID: PMC6170300. DOI: 10.5045/br.2018.53.3.233.
24 El-Sharkawy F, Margolskee E. Pediatric myeloproliferative neoplasms[J]. Clin Lab Med, 2021, 41(3): 529-540. PMID: 34304780. DOI: 10.1016/j.cll.2021.04.010.
25 Al-Mashdali AF, Aldapt MB, Rahhal A, et al. Pediatric philadelphia-negative myeloproliferative neoplasms in the era of WHO classification: a systematic review[J]. Diagnostics (Basel), 2023, 13(3): 377. PMID: 36766480. PMCID: PMC9914355. DOI: 10.3390/diagnostics13030377.
26 Ameen M, Siddiqui K, Khan S, et al. Essential thrombocythemia in children: a retrospective study[J]. J Hematol, 2021, 10(3): 106-113. PMID: 34267847. PMCID: PMC8256913. DOI: 10.14740/jh822.
27 Giona F, Teofili L, Moleti ML, et al. Thrombocythemia and polycythemia in patients younger than 20 years at diagnosis: clinical and biologic features, treatment, and long-term outcome[J]. Blood, 2012, 119(10): 2219-2227. PMID: 22262773. DOI: 10.1182/blood-2011-08-371328.
28 Ishida H, Miyajima Y, Hyakuna N, et al. Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: a retrospective nationwide survey[J]. EJHaem, 2020, 1(1): 86-93. PMID: 35847744. PMCID: PMC9175656. DOI: 10.1002/jha2.39.
29 Fu R, Liu D, Cao Z, et al. Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children[J]. Leukemia, 2016, 30(3): 746-749. PMID: 26118316. PMCID: PMC4777775. DOI: 10.1038/leu.2015.167.
30 Randi ML, Geranio G, Bertozzi I, et al. Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort[J]. Br J Haematol, 2015, 169(4): 584-589. PMID: 25716342. DOI: 10.1111/bjh.13329.
31 Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management[J]. Am J Hematol, 2019, 94(1): 133-143. PMID: 30281843. DOI: 10.1002/ajh.25303.
32 Flagg C, Pierce B. Essential thrombocythemia in a 15-year-old female: presentation, workup, and treatment considerations in the pediatric population[J]. J Adv Pract Oncol, 2021, 12(4): 423-429. PMID: 34123478. PMCID: PMC8163254. DOI: 10.6004/jadpro.2021.12.4.6.
33 Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J]. Blood, 2016, 127(20): 2391-2405. PMID: 27069254. DOI: 10.1182/blood-2016-03-643544.
34 Kucine N. Myeloproliferative neoplasms in children, adolescents, and young adults[J]. Curr Hematol Malig Rep, 2020, 15(2): 141-148. PMID: 32172359. PMCID: PMC7234912. DOI: 10.1007/s11899-020-00571-8.
35 Randi ML, Bertozzi I, Putti MC. Contemporary management of essential thrombocythemia in children[J]. Expert Rev Hematol, 2019, 12(5): 367-373. PMID: 30925843. DOI: 10.1080/17474086.2019.1602034.
36 Barbui T, Finazzi G, Carobbio A, et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis)[J]. Blood, 2012, 120(26): 5128-5133, quiz 5252. PMID: 23033268. DOI: 10.1182/blood-2012-07-444067.
37 Barbui T, Tefferi A, Vannucchi AM, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet[J]. Leukemia, 2018, 32(5): 1057-1069. PMID: 29515238. PMCID: PMC5986069. DOI: 10.1038/s41375-018-0077-1.
38 Harrison CN, Bareford D, Butt N, et al. Guideline for investigation and management of adults and children presenting with a thrombocytosis[J]. Br J Haematol, 2010, 149(3): 352-375. PMID: 20331456. DOI: 10.1111/j.1365-2141.2010.08122.x.
39 Mascarenhas J, Kosiorek HE, Prchal JT, et al. A randomized phase 3 trial of interferon-α vs hydroxyurea in polycythemia vera and essential thrombocythemia[J]. Blood, 2022, 139(19): 2931-2941. PMID: 35007321. PMCID: PMC9101248. DOI: 10.1182/blood.2021012743.
40 Dexter D, McGann PT. Hydroxyurea for children with sickle cell disease in sub-Saharan Africa: a summary of the evidence, opportunities, and challenges[J]. Pharmacotherapy, 2023, 43(5): 430-441. PMID: 36906823. DOI: 10.1002/phar.2792.
41 Ofakunrin AOD, Oguche S, Adekola K, et al. Effectiveness and safety of hydroxyurea in the treatment of sickle cell anaemia children in Jos, north central Nigeria[J]. J Trop Pediatr, 2020, 66(3): 290-298. PMID: 31608959. PMCID: PMC7249733. DOI: 10.1093/tropej/fmz070.
42 常明霞. α-干扰素联合羟基脲治疗原发性血小板增多症的效果[J]. 临床医学, 2022, 42(2): 113-114. DOI: 10.19528/j.issn.1003-3548.2022.02.045.
43 缪佩文, 陈灿, 余晶迪, 等. 干扰素-α治疗真性红细胞增多症和原发性血小板增多症的有效性和安全性[J]. 临床血液学杂志, 2023, 36(11): 813-818, 823. DOI: 10.13201/j.issn.1004-2806.2023.11.010.
44 Harrison CN, Mead AJ, Panchal A, et al. Ruxolitinib vs best available therapy for ET intolerant or resistant to hydroxycarbamide[J]. Blood, 2017, 130(17): 1889-1897. PMID: 29074595. PMCID: PMC6410531. DOI: 10.1182/blood-2017-05-785790.
45 Gill H, Palandri F, Ross DM, et al. A phase 2 study of the LSD1 inhibitor bomedemstat (IMG-7289) for the treatment of essential thrombocythemia (ET)[J]. Blood, 2022, 140(S1): 1784-1787. DOI: 10.1182/blood-2022-159047.
46 Reis E, Buonpane R, Celik H, et al. Discovery of INCA033989, a monoclonal antibody that selectively antagonizes mutant calreticulin oncogenic function in myeloproliferative neoplasms (MPNs)[J]. Blood, 2022, 140(S1): 14-15. DOI: 10.1182/blood-2022-159435.