Institute of Psychiatry and Neurology, Warsaw, Poland.
Neurol Neurochir Pol. 2020;54(2):185-192. doi: 10.5603/PJNNS.a2020.0028. Epub 2020 Apr 7.
Wilson's Disease (WD) is an inherited disorder of impaired hepatic copper metabolism that leads to copper accumulation in organs such as the liver and brain. Using transcranial sonography (TCS), we investigated brain changes in WD patients during de-coppering treatment.
Forty-one consecutive treatment-naïve WD patients were classified as having hepatic (WDh; n = 20) or neurological WD (WDn; n = 21) based on symptoms at diagnosis; all patients received either D-penicillamine or zinc sulfate and were observed for 24 months. TCS was performed at regular intervals from study entry (month 0) to month 24.
At study entry, bilateral lenticular nucleus (LN) hyperechogenicity was found in 18 patients with WDn and in nine with WDh (p = 0.006). Substantia nigra (SN) hyperechogenicity was found in nine patients with WDn) and four with WDh (p = ns). After 24 months of treatment, bilateral LN hyperechogenicity was still present in 17 patients with WDn and 14 with WDh (p = ns). SN hyperechogenicity was present in one patient with WDn and two with WDh (p = ns). The decrease in the number of patients with SN hyperechogenicity was significant in the WDn group (p < 0.05).
LN hyperechogenicity is the most common TCS abnormality in WD patients, and was observed despite two years of de-coppering treatment. SN hyperechogenicity was less common, and decreased after treatment introduction.
威尔逊病（WD）是一种遗传性肝脏铜代谢障碍疾病，导致铜在肝脏和大脑等器官中蓄积。我们使用经颅超声（TCS）研究了 WD 患者在去铜治疗过程中的脑变化。
根据诊断时的症状，将 41 例连续未经治疗的 WD 患者分为肝型 WD（WDh；n = 20）或神经型 WD（WDn；n = 21）；所有患者均接受 D-青霉胺或硫酸锌治疗，并观察 24 个月。TCS 从研究开始（第 0 个月）到第 24 个月定期进行。
在研究开始时，18 例 WDn 患者和 9 例 WDh 患者的双侧豆状核（LN）回声增强（p = 0.006）。9 例 WDn 患者和 4 例 WDh 患者的黑质（SN）回声增强（p = ns）。经过 24 个月的治疗，17 例 WDn 患者和 14 例 WDh 患者的双侧 LN 回声增强仍然存在（p = ns）。1 例 WDn 患者和 2 例 WDh 患者的 SN 回声增强（p = ns）。WDn 组 SN 回声增强患者数量减少具有统计学意义（p < 0.05）。
LN 回声增强是 WD 患者最常见的 TCS 异常，尽管经过两年的去铜治疗仍可观察到。SN 回声增强较少见，治疗后减少。
