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KMID : 1197720230160020168
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대한파킨슨병 및 이상운동질환 학회지
2023 Volume.16 No. 2 p.168 ~ p.179
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Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study in a Taiwanese Population: An 11-Year Follow-Up Study
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Sung-Pin Fan
Yih-Chih Kuo
Ni-Chung Lee
Yin-Hsiu Chien
Wuh-Liang Hwu
Yu-Hsuan Huang
Han-I Lin
Tai-Chung Tseng
Tung-Hung Su
Shiou-Ru Tzeng
Chien-Ting Hsu
Huey-Ling Chen
Chin-Hsien Lin
Yen-Hsuan Ni
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Abstract
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Objective Wilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort.
Methods Medical records of WD patients diagnosed from 2006?2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes.
Results The present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations.
Conclusion The distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.
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KEYWORD
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ATP7B, Genetics, Wilson’s disease
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