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. 2019 Mar 19;99(11):806-811.
doi: 10.3760/cma.j.issn.0376-2491.2019.11.002.

[Clinical characteristics of the Wilson disease carrier]

[Article in Chinese]
X X Zhou  1 , R X He  2 , X Y Pu  3 , X H Li  4 , H L Qin  2 , H W Huang  4 , X L Liang  4
Affiliations

[Clinical characteristics of the Wilson disease carrier]

[Article in Chinese]
X X Zhou et al. Zhonghua Yi Xue Za Zhi. .

Abstract
in English, Chinese

Objective: To study the clinical symptoms, copper metabolism and imaging characteristics of Wilson disease (WD) carriers and to explore the treatment strategy of WD carriers. Methods: Forty WD carriers, 40 WD patients and 20 normal controls from the First Affiliated Hospital of Sun Yat-sen University from July 2007 to May 2018 were included. The modified Young scale was used for neural symptom scoring, and Child grading of liver function, mental symptoms rating scale, magnetic resonance imaging (MRI) scan, susceptibility weighted imaging (SWI) inspection, metal metabolism tests were also applied to all the included subjects. Corrected phase (CP) was measured by SWI. WD carriers were divided into symptomatic group and asymptomatic group. Symptomatic WD carriers were treated with penicillamine for 2 weeks and zinc gluconate for 3 months, then their neurological symptoms, liver function grade, metal metabolism index were rechecked. Results: Six WD carriers presented with some clinical symptoms, including 5 with neurological symptoms and 4 with liver dysfunction. The score of Hamilton anxiety (HAMA) scale of symptomatic WD carriers was higher than that of normal control group (P=0.021). 85% of carriers had ceruloplasmin level less than 0.26 g/L. 80% of carriers had serum copper between normal controls and WD patients. The free copper level of WD carriers was lower than that of WD patients (P=0.012, 0.019). Urinary copper in symptomatic WD carriers was higher than normal controls (P=0.047). The CP values of thalamus, globus pallidus and putamen in symptomatic WD carriers were lower than those in normal control group. After treatment with penicillamine in symptomatic WD carriers, urinary copper was higher than that before treatment (P=0.036). After treatment, the liver enzymes of symptomatic WD carriers returned to normal, and the score of modified Young scale was lower than before treatment (P=0.031). Conclusions: Mild copper metabolism abnormality is seen in WD carriers. A few carriers have neurological symptoms such as limb tremors, or liver symptoms such as abnormal liver enzymes. Abnormal copper metabolism is more serious in symptomatic WD carriers than in asymptomatic WD carriers. Symptomatic WD carriers can be treated with zinc gluconate.

目的： 观察肝豆状核变性（WD）携带者的临床症状、铜代谢特点、影像学特点，探讨WD携带者的治疗策略。 方法： 收集2007年7月至2018年5月中山大学附属第一医院WD携带者40例，WD患者40例，健康对照20名。入选者进行以下检查：用改良Young量表进行神经症状评分、Child肝功能分级、精神症状量表评分、磁共振平扫、磁敏感呈像（SWI）、金属代谢检查。在SWI上测量ROI相位值（CP）。将WD携带者分为有症状组、无症状组。有症状的WD携带者予以青霉胺2周、葡萄糖酸锌3个月治疗。复查神经症状、肝功能等级、金属代谢指标。 结果： 6例WD携带者出现临床症状，其中5例有神经症状，4例有肝功能异常。有症状的WD携带者HAMA量表得分高于健康对照（P=0.021）。85%携带者铜蓝蛋白低于0.26 g/L。80%携带者的血清铜水平介于健康对照和WD患者水平之间。WD携带者游离铜低于WD患者（P=0.012，0.019）。有症状携带者尿铜较健康对照增高（P=0.047）。有症状的WD携带者丘脑、苍白球、壳核相位值较健康对照降低。有症状WD携带者青霉胺治疗后，尿铜较治疗前增高（P=0.036）。经过治疗，有症状WD携带者肝酶恢复正常，改良Young量表评分较治疗前降低（P=0.031）。 结论： WD携带者有轻度铜代谢异常。少数携带者会出现肢体震颤等神经症状，或肝酶异常等肝脏症状。出现症状的WD携带者，铜代谢异常较无症状的WD携带者更加严重。有症状的WD携带者，可以采用葡萄糖酸锌治疗。.

Keywords: Ceruloplasmin; SWI; Serum copper; Urinary copper; Wilson disease.

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