Sipilä Jussi O T, Kytövuori Laura, Kaasinen Valtteri
Clinical Neurosciences, University of Turku, Turku, Finland; Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland.
Research Unit of Clinical Medicine, Medical Research Center Oulu, Finland; Neurocenter, Neurology, Oulu University Hospital and University of Oulu, Oulu, Finland.
J Neurol Sci. 2023 May 15;448:120620. doi: 10.1016/j.jns.2023.120620. Epub 2023 Mar 22.
Genotype-phenotype correlation data covering all ages of Wilson's disease onset in Caucasian patients are limited. We therefore analyzed genotype-phenotype correlations in a retrospective cohort of Finnish patients. Six homozygous (HoZ) and 11 compound heterozygous (CoHZ) patients were included. There were no differences in the presence/absence of hepatic, neurological, psychiatric or any symptoms at diagnosis (p > 0.30 for all) between HoZ and CoHZ patients, but HoZ patients had an earlier age of diagnosis (median 6.7 versus 34.5; p = 0.003). Severe liver affliction was almost exclusively associated with the p.H1069Q variant. Patients with p.H1069Q had a later mean age of diagnosis (30.2 ± 11.6 vs. 8.7 ± 4.9 years; p < 0.001) compared to those without. There were no differences in the presence/absence of hepatic, neurological, psychiatric or any symptoms at diagnosis between p.H1069Q-positive and p.H1069Q-negative patients (p > 0.54 for all). These results suggest that population-specific factors may partly explain the high clinical variability of Wilson's disease.
关于白种人威尔逊病患者所有发病年龄的基因型-表型相关性数据有限。因此，我们分析了一组芬兰患者回顾性队列中的基因型-表型相关性。纳入了6例纯合子（HoZ）和11例复合杂合子（CoHZ）患者。HoZ和CoHZ患者在诊断时肝脏、神经、精神或任何症状的有无方面没有差异（所有p>0.30），但HoZ患者的诊断年龄较早（中位数6.7岁对34.5岁；p=0.003）。严重肝脏疾病几乎仅与p.H1069Q变异相关。与无p.H1069Q变异的患者相比，有p.H1069Q变异的患者诊断时的平均年龄较晚（30.2±11.6岁对8.7±4.9岁；p<0.001）。p.H1069Q阳性和p.H1069Q阴性患者在诊断时肝脏、神经、精神或任何症状的有无方面没有差异（所有p>0.54）。这些结果表明，特定人群因素可能部分解释了威尔逊病高度的临床变异性。
