以血小板减少、脾大为首发表现的肝豆状核变性1例

doi:10.3969/j.issn.1674-8115.2026.04.016

上海交通大学学报（医学版） ›› 2026, Vol. 46 ›› Issue (4): 555-560.doi: 10.3969/j.issn.1674-8115.2026.04.016

• 病例报告 • 上一篇

以血小板减少、脾大为首发表现的肝豆状核变性1例

闫晓倩¹^,², 杨洁²(), 杨永宾³, 陈钰⁴, 李燕², 李杰²

^1.河北北方学院研究生院，张家口 075132
^2.河北省人民医院血液科，石家庄 050051
^3.河北省人民医院血管外科，石家庄 050051
^4.河北医科大学研究生院，石家庄 050051

收稿日期:2025-11-14 接受日期:2025-12-31 出版日期:2026-04-10 发布日期:2026-04-10
通讯作者: 杨洁，副主任医师，硕士；电子信箱：yjyyb313@163.com。

A case report of Wilson's disease presenting with thrombocytopenia and splenomegaly as the inital manifestations

Yan Xiaoqian¹^,², Yang Jie²(), Yang Yongbin³, Chen Yu⁴, Li Yan², Li Jie²

^1.Graduate School of Hebei North University, Zhangjiakou 075132, China
^2.Department of Hematology, Hebei General Hospital, Shijiazhuang 050051, China
^3.Department of Vascular Surgery, Hebei General Hospital, Shijiazhuang 050051, China
^4.Graduate School of Hebei Medical University, Shijiazhuang 050051, China

Received:2025-11-14 Accepted:2025-12-31 Online:2026-04-10 Published:2026-04-10
Contact: Yang Jie, E-mail: yjyyb313@163.com.

摘要/Abstract

摘要：

肝豆状核变性是临床上少见的经治疗可逆转的遗传代谢性疾病，早期诊断及尽早治疗是改善其预后的关键因素。血小板减少及脾大作为临床常见表现，特异性较低。其潜在的病因复杂多样，常涉及血液系统疾病、免疫系统疾病、消化系统疾病、感染性疾病及恶性肿瘤等多种疾病，这使其在临床诊断上常面临巨大挑战，极易导致误诊。该文深入分析了1例以血小板减少、脾大为首发症状的肝豆状核变性患者的病例资料，旨在提升临床医师在面对非特异性临床表现时，对潜在罕见疾病的诊断意识，从而避免误诊、漏诊，争取早期诊断和干预。

关键词: 肝豆状核变性, 血小板减少症, 脾大, 非特异性表现, 诊疗

Abstract:

Wilson's disease is a rare hereditary metabolic disorder that is reversible with treatment. Early diagnosis and timely treatment are critical factors in improving its prognosis. Thrombocytopenia and splenomegaly are common clinical manifestations but lack specificity. Their underlying causes are complex and diverse, often involving the hematologic system, immune system, digestive system, infectious diseases, and malignancies, which poses significant challenges in clinical diagnosis and easily leads to misdiagnosis. This article analyzes the clinical data of a case of Wilson's disease presenting with thrombocytopenia and splenomegaly as the initial manifestations, aiming to enhance clinicians' awareness of potential rare diseases when encountering non-specific clinical manifestations, thereby avoiding misdiagnosis and missed diagnosis and facilitating early diagnosis and intervention.

Key words: Wilson's disease, thrombocytopenia, splenomegaly, non-specific manifestation, diagnosis and treatment

中图分类号:

R742.4

闫晓倩, 杨洁, 杨永宾, 陈钰, 李燕, 李杰. 以血小板减少、脾大为首发表现的肝豆状核变性1例[J]. 上海交通大学学报（医学版）, 2026, 46(4): 555-560.

Yan Xiaoqian, Yang Jie, Yang Yongbin, Chen Yu, Li Yan, Li Jie. A case report of Wilson's disease presenting with thrombocytopenia and splenomegaly as the inital manifestations[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2026, 46(4): 555-560.

图/表 4

图1 门静脉CT血管成像Note： The liver margin is irregular with small undulations, and the left and right lobes are disproportionate (red arrow); the spleen is enlarged (blue arrow).

Fig 1 CT protal venography

图2 头颅磁共振成像Note： Head magnetic resonance imaging at different levels reveals symmetrical patchy hyperintensities in the bilateral cerebral peduncles (A), pons (B), and bilateral thalami (C) (red arrows).

Fig 2 Magnetic resonance imaging of the brain

表1 患者 ATP7B 基因测序结果

Tab 1 Sequencing results of the ATP7B gene in the patient

Gene	Chromosomal location	Mutation information	Zygosity	Inheritance	Variant origin	Variation classification
ATP7B	Chr13:52532469	NM_000053.4:c.2333G>T (p.Arg778Leu)	het	AR	NA	Pathogenic variant
ATP7B	Chr13:52516663	NM_000053.4:c.3271T>C (p.Cys1091Arg)	het	AR	NA	Likely pathogenic variant

图3 患者的 ATP7B 基因测序峰值图（Sanger测序）Note： A. c.2333G>T (p.Arg778Leu), forward sequencing,heterozygosis. B. c.2333G>T (p.Arg778Leu), reverse sequencing, heterozygous. C. c.3271T>C (p.Cys1091Arg), forward sequencing, heterozygous. D. c.3271T>C (p.Cys1091Arg), reverse sequencing, heterozygous. Different colors represent different bases: green—A, red—T, black—G, blue—C. The overlapping peaks indicate the mutation sites (red arrows).

Fig 3 Sanger sequencing chromatograms of the ATP7B gene

参考文献 16

[1]	Kumar J, Roy I. Advancements in diagnostic approaches for Wilson's disease[J]. Anal Methods, 2025, 17(21): 4228-4250.
[2]	Song J C, Liu S Y, Zhu F, et al. Expert consensus on the diagnosis and treatment of thrombocytopenia in adult critical care patients in China[J]. Mil Med Res, 2020, 7(1): 15.
[3]	中华医学会肝病学分会遗传代谢性肝病协作组, 段钟平, 郑素军, 等. 肝豆状核变性诊疗指南(2022年版)[J]. 中华肝脏病杂志, 2022, 30(1): 9-20.
	Inherited Metabolic Liver Disease Collaboration Group, Chinese Society of Hepatology, Chinese Medical Association, Duan Z P, Zheng S J, et al. Guidelines for the diagnosis and treatment of hepatolenticular degeneration(2022 edition)[J]. Chinese Journal of Hepatology, 2022, 30(1): 9-20.
[4]	Korga M, Pawlik P, Zaroda P, et al. Wilson's disease-clinical picture, factors influencing disease progression, treatment methods[J]. Qual Sport, 2024, 15: 51826.
[5]	Lin S Z, Cai J L, Huang Y X, et al. Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review[J]. BMC Med Genomics, 2024, 17(1): 188.
[6]	Khodashahi M, Mohajeri N, Alipour M R, et al. A rare and intriguing case of Wilson's disease initially suspected of systemic lupus erythematosus[J]. Clin Case Rep, 2025, 13: e70091.
[7]	Litwin T, Antos A, Bembenek J, et al. Neurological deterioration in Wilson's disease-types, etiology, course, and management[J]. Discov Med, 2024, 36(183): 646-654.
[8]	Roy D, Mukherjee A, Chakravarty A. Pitfalls in the diagnosis of Wilson disease[J]. Curr Neurol Neurosci Rep, 2025, 25(1): 40.
[9]	Tao Z, Zhou J F, Jiang Z Z, et al. Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a case report[J]. Front Med, 2025, 12: 1599283.
[10]	Garbuz M, Ovchinnikova E, Ovchinnikova A, et al. Spectrum of pathogenic variants of the ATP7B gene and genotype-phenotype correlation in eastern Eurasian patient cohorts with Wilson's disease[J]. Biomedicines, 2024, 12(12): 2833.
[11]	Zhang S J, Yang W M, Li X, et al. Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China[J]. Transl Neurodegener, 2022, 11(1): 13.
[12]	Xue Z R, Chen H Y, Yu L, et al. A systematic review and meta-analysis of the R778L mutation in ATP7B with Wilson disease in China[J]. Pediatr Neurol, 2023, 145: 135-147.
[13]	夏俊珂, 宁昊丰, 罗晓, 等. 115例肝豆状核变性患者的基因型-表型关系和遗传学研究[J]. 中华肝脏病杂志, 2024, 32(6): 558-562.
	Xia J K, Ning H F, Luo X, et al. Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease[J]. Chinese Journal of Hepatology, 2024, 32(6): 558-562.
[14]	Chen H, Wang X, Zhang J, et al. Effect of splenectomy based on inverse probability weighting of the propensity score on Wilson's disease with hypersplenism: a retrospective cohort study[J]. Exp Ther Med, 2023, 25(5): 220.
[15]	Zhang W Z, Yu Q S, Peng H, et al. Clinical observation and risk assessment after splenectomy in hepatolenticular degeneration patients associated with hypersplenism[J]. Front Surg, 2022, 9: 972561.
[16]	Beyzaei Z, Ghatei K, Shamsaeefar A, et al. Liver transplantation in Wilson disease: a single-center experience[J]. Orphanet J Rare Dis, 2025, 20(1): 292.

以血小板减少、脾大为首发表现的肝豆状核变性1例

A case report of Wilson's disease presenting with thrombocytopenia and splenomegaly as the inital manifestations

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表 4

参考文献 16

相关文章 15

编辑推荐

Metrics

[1]	刘莉, 范海霞, 耿海霞. 颞下颌关节紊乱病多学科联合诊治的临床研究进展[J]. 上海交通大学学报（医学版）, 2026, 46(4): 529-536.
[2]	黄周轩, 邵静波. 慢性原发性免疫性血小板减少症的治疗研究进展[J]. 上海交通大学学报（医学版）, 2025, 45(4): 508-516.
[3]	杜芳, 周凌云, 陈姣, 刘丹波, 向泓先, 陈海飞. 复发难治性多发性骨髓瘤伴多病灶髓外浸润合并肺腺癌1例报道[J]. 上海交通大学学报（医学版）, 2025, 45(1): 122-128.
[4]	刘嘉榆, 黄方, 郝思国. 慢性粒-单核细胞白血病合并免疫性血小板减少症1例[J]. 上海交通大学学报（医学版）, 2024, 44(2): 287-290.
[5]	李昕雨, 左斌, 王文, 钮晓音, 翁震, 何杨. 脂联素在免疫性血小板减少症患者外周血中的水平及其对巨核细胞系分化的作用[J]. 上海交通大学学报（医学版）, 2022, 42(7): 866-874.
[6]	王昕芃, 王君颖, 蔡佳翌, 付婉彬, 钟华. 低剂量地西他滨对免疫性血小板减少症患者来源的骨髓间充质干细胞生物学行为的影响[J]. 上海交通大学学报（医学版）, 2022, 42(6): 758-767.
[7]	冉淑君，梁景平. 口腔诊疗中新型冠状病毒气溶胶传播的防控[J]. 上海交通大学学报（医学版）, 2020, 40(3): 282-.
[8]	钱洁蕾，束蓉. 牙周诊疗中针对新型冠状病毒感染的防控[J]. 上海交通大学学报（医学版）, 2020, 40(2): 145-.
[9]	董晓晶 1，张男 1，甘露 1，吴怡颖 1，陈允允 1，方琼 2. 个案管理模式下老年乳腺癌患者辅助治疗依从性分析[J]. 上海交通大学学报（医学版）, 2019, 39(2): 170-.
[10]	王君颖 1，李昕 1，殷婷玉 2，刘佳 2，王晓栋 3，钟华 1. 免疫性血小板减少症患者来源的骨髓间充质细胞对巨核细胞生物学行为的影响[J]. 上海交通大学学报（医学版）, 2018, 38(6): 616-.
[11]	丁语,王新,王兵,赵海光 . 环激光联合硬化剂注射治疗下肢静脉功能不全的中短期疗效分析#br#[J]. 上海交通大学学报（医学版）, 2017, 37(8): 1138-.
[12]	马静，沈鸣，段友容，杜联芳 . 载紫杉醇纳米诊疗体的制备及初步应用[J]. 上海交通大学学报（医学版）, 2017, 37(2): 166-.
[13]	鲁晓事，焦先婷，赵蕾，等. 肝豆状核变性患儿长期随访营养评价[J]. 上海交通大学学报（医学版）, 2013, 33(9): 1271-.
[14]	胡璟，焦先婷，刘晓青，等. Atp7b^tx-J小鼠脑组织细胞凋亡及ATP7A表达研究[J]. 上海交通大学学报（医学版）, 2013, 33(7): 916-.
[15]	焦先婷, 刘晓青, 黄丽素, 等. 肝豆状核变性患者青霉胺治疗期间尿中多种元素分析[J]. , 2009, 29(8): 951-.