| 摘要: |
| 目的 总结分析血清铜蓝蛋白（CP）水平正常的肝豆状核变性（WD）患者的临床特征。方法 以血清CP ≥ 200 mg/L为正常值，选取2018年1月至2022年10月住院治疗的血清CP水平正常的WD患者82例（CP正常组）作为研究对象，选取同一时间入院的血清CP<200 mg/L的WD患者82例作为对照，比较两组患者的一般资料、并发症、实验室检查结果、King评分等指标，以及治疗前后铜生化指标变化情况。结果 CP正常组患者年龄大于对照组（P<0.001），肝型患者比例高于对照组（P<0.001），肝硬化、腹水发生率高于对照组（均P<0.05），总胆汁酸、丙氨酸转氨酶、天冬氨酸转氨酶、γ-谷氨酰转移酶、血氨、D-二聚体、血清CP、血清铜、铜氧化酶、肝纤维化指标（透明质酸、层粘连蛋白、Ⅳ型胶原蛋白）、King评分高于对照组，白蛋白低于对照组，差异均有统计学意义（均P<0.05）。治疗后，CP正常组患者有58例再次入院，患者血清CP、血清铜、铜氧化酶水平均较治疗前下降（均P<0.001），44.83%（26/58）的患者治疗后血清CP水平仍≥ 200 mg/L；对照组治疗后有66例患者再次入院，仅患者的血清铜水平较治疗前下降（P=0.001）。结论 血清CP水平正常的WD患者以肝型为主，年龄偏大，部分患者肝损害偏重，治疗后血清CP水平可轻度下降。 |
| 关键词: 铜蓝蛋白 正常值 肝豆状核变性 临床特征 |
| DOI：10.16781/j.CN31-2187/R.20230121 |
| 投稿时间：2023-03-18修订日期：2023-07-10 |
| 基金项目:安徽中医药大学科学研究基金（2020sjyb06）. |
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| Clinical characteristics of Wilson disease patients with normal serum ceruloplasmin level |
| XU Yayun,FANG Mingjuan,LI Kai,YANG Renmin* |
(Department of Neurology, Affiliated Hospital of Neurology Institute, Anhui University of Chinese Medicine, Hefei 230012, Anhui, China
*Corresponding author) |
| Abstract: |
| Objective To analyze the clinical characteristics of Wilson disease (WD) patients with normal serum ceruloplasmin (CP) level. Methods With serum CP ≥ 200 mg/L as normal value, 82 WD patients with normal serum CP level (normal CP group) admitted from Jan. 2018 to Oct. 2022 were selected as the subjects, and 82 WD patients with serum CP< 200 mg/L admitted at the same time were selected as control group. General data, complications, laboratory parameters, King score, and the copper biochemical indicators before and after treatment were compared between the 2 groups. Results The age of the normal CP group was older than that of the control group (P<0.001). The proportion of hepatic type patients was significantly higher than that of the control group (P<0.001). The incidences of liver cirrhosis and ascites were significantly higher than those of the control group (both P<0.05). Total bile acid, alanine transaminase, aspartate transaminase, γ-glutamyltransferase, ammonia, D-dimer, serum CP, serum copper, copper oxidase, liver fibrosis indexes (hyaluronic acid, laminin, and collagenⅣ), and King score were significantly higher than those of the control group, and albumin was significantly lower than that of the control group (all P<0.05). After treatment, the levels of serum CP, serum copper, and copper oxidase were significantly lower than those before treatment in 58 rehospitalized cases in the normal CP group (all P<0.001), the levels of serum CP in 44.83% (26/58) patients in normal CP group were still ≥ 200 mg/L, and only serum copper level of 66 rehospitalized cases in the control group was significantly lower than that before treatment (P=0.001). Conclusion WD patients with normal serum CP level are mainly hepatic type, with older age, and some patients have more severe liver damage. Serum CP level can be slightly decreased after treatment. |
| Key words: ceruloplasmin normal values hepatolenticular degeneration clinical features |
