目的探讨Wilson病(Wilson disease,WD)患者冲动性对数字成瘾倾向的影响及其相关因素。方法纳入66例WD患者为研究对象,根据临床表现分为脑型组42例、肝型组24例。采用网络成瘾量表(internet addiction test,IAT)评估患者网络成瘾倾向,总...目的探讨Wilson病(Wilson disease,WD)患者冲动性对数字成瘾倾向的影响及其相关因素。方法纳入66例WD患者为研究对象,根据临床表现分为脑型组42例、肝型组24例。采用网络成瘾量表(internet addiction test,IAT)评估患者网络成瘾倾向,总分>50分界定为具有网络成瘾倾向;使用Barratt冲动量表中文版(the Chinese version of the Barratt impulsiveness scale,11version,BIS-11-C)评估患者冲动性;手机依赖量表(mobile phone addiction index,MPAI)评估对手机使用的依赖程度;通过颅脑MRI检查患者病变脑区的部位和累计频次。结果66例WD患者中有数字成瘾倾向者45例(68.2%),其中脑型组中35例(53.0%)、肝型组中10例(15.2%),两组成瘾倾向者比例差异有统计学意义(P=0.001)。脑型组患者在BIS-11-C、MPAI量表多项因子分上高于肝型组(P<0.05)。所有患者MPAI量表中失控性因子分与BIS-11-C量表中的注意力冲动性因子分(r=0.499,P=0.001)、运动冲动性因子分(r=0.553,P=0.001)、无计划冲动性因子分(r=0.535,P=0.001)、冲动控制总分(r=0.653,P=0.001)正相关。线性回归分析显示注意力冲动性因子分与额叶病变(B=-1.634,P=0.018)相关联,失控性因子分与额叶病变(B=-3.609,P=0.023)相关联,戒断性因子分与丘脑病变(B=-5.047,P=0.007)、额叶病变(B=-2.204,P=0.024)相关联,逃避性因子分与顶叶病变(B=-1.867,P=0.032)相关联,低效性因子分与壳核病变(B=-1.789,P=0.016)、额叶病变(B=-1.592,P=0.044)相关联。结论脑型WD患者较肝型有更高的数字成瘾倾向,数字成瘾倾向与冲动性相关。WD患者的数字成瘾倾向可能与壳核、丘脑、额叶等多个脑区病变引起的冲动控制障碍有关。展开更多
BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are ...BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are limited.Prompt diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life expectancy.The clinical presentations and outcomes of WD can vary within a single family.CASE SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family screening.The male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer rings.He developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication shortages.His condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of follow-ups.The female patient,diagnosed at age 10,exhibited only biochemical alterations.Her treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up period.We discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic strategies.CONCLUSION Our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.展开更多
文摘目的探讨Wilson病(Wilson disease,WD)患者冲动性对数字成瘾倾向的影响及其相关因素。方法纳入66例WD患者为研究对象,根据临床表现分为脑型组42例、肝型组24例。采用网络成瘾量表(internet addiction test,IAT)评估患者网络成瘾倾向,总分>50分界定为具有网络成瘾倾向;使用Barratt冲动量表中文版(the Chinese version of the Barratt impulsiveness scale,11version,BIS-11-C)评估患者冲动性;手机依赖量表(mobile phone addiction index,MPAI)评估对手机使用的依赖程度;通过颅脑MRI检查患者病变脑区的部位和累计频次。结果66例WD患者中有数字成瘾倾向者45例(68.2%),其中脑型组中35例(53.0%)、肝型组中10例(15.2%),两组成瘾倾向者比例差异有统计学意义(P=0.001)。脑型组患者在BIS-11-C、MPAI量表多项因子分上高于肝型组(P<0.05)。所有患者MPAI量表中失控性因子分与BIS-11-C量表中的注意力冲动性因子分(r=0.499,P=0.001)、运动冲动性因子分(r=0.553,P=0.001)、无计划冲动性因子分(r=0.535,P=0.001)、冲动控制总分(r=0.653,P=0.001)正相关。线性回归分析显示注意力冲动性因子分与额叶病变(B=-1.634,P=0.018)相关联,失控性因子分与额叶病变(B=-3.609,P=0.023)相关联,戒断性因子分与丘脑病变(B=-5.047,P=0.007)、额叶病变(B=-2.204,P=0.024)相关联,逃避性因子分与顶叶病变(B=-1.867,P=0.032)相关联,低效性因子分与壳核病变(B=-1.789,P=0.016)、额叶病变(B=-1.592,P=0.044)相关联。结论脑型WD患者较肝型有更高的数字成瘾倾向,数字成瘾倾向与冲动性相关。WD患者的数字成瘾倾向可能与壳核、丘脑、额叶等多个脑区病变引起的冲动控制障碍有关。
文摘BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are limited.Prompt diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life expectancy.The clinical presentations and outcomes of WD can vary within a single family.CASE SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family screening.The male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer rings.He developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication shortages.His condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of follow-ups.The female patient,diagnosed at age 10,exhibited only biochemical alterations.Her treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up period.We discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic strategies.CONCLUSION Our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.
