Bolsover Fay E, Murphy Elaine, Cipolotti Lisa, Werring David J, Lachmann Robin H
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 8-11 Queen Square, Internal Mailbox 92, London, WC1N 3BG, UK.
J Inherit Metab Dis. 2014 Mar;37(2):177-87. doi: 10.1007/s10545-013-9643-x. Epub 2013 Aug 16.
Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. However, the prevalence and pattern of associated cognitive dysfunction is not well understood.
To investigate whether there is reliable evidence for neuropsychological impairment in patients with Fabry disease and which cognitive domains are affected. To estimate the prevalence of and factors associated with depression in patients with Fabry disease.
Qualitative systematic review of the literature of studies conducting neuropsychological assessment or measuring the prevalence of depression in adults with Fabry disease using the preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines where appropriate.
There is some evidence for neuropsychological impairment in Fabry disease in executive functioning, information processing speed and attention, with preservation of: general intellectual functioning, memory, naming, perceptual functioning and global cognitive functioning. Prevalence rates of depression in Fabry disease ranged from 15% to 62%, with the largest study to date reporting a prevalence rate of 46%. The most common factor associated with depression was neuropathic pain, both directly and indirectly by affecting social and adaptive functioning.
Our review suggests that Fabry disease may be associated with a characteristic pattern of cognitive deficits and a high prevalence of psychological disorders such as depression but highlights the limited available data. Exploring the nature of cognitive impairment in Fabry disease using standardised neuropsychological assessment, brain imaging and measures of depression is an important task for future research.
法布里病是一种X连锁溶酶体贮积症，可导致多器官功能障碍，包括脑血管疾病和心理障碍。然而，相关认知功能障碍的患病率和模式尚未得到充分了解。
调查法布里病患者是否存在神经心理学损害的可靠证据以及哪些认知领域受到影响。评估法布里病患者抑郁症的患病率及相关因素。
对相关文献进行定性系统评价，这些文献在适当情况下使用系统评价和Meta分析的首选报告项目（PRISMA）指南，对成年法布里病患者进行神经心理学评估或测量抑郁症患病率。
有证据表明法布里病患者在执行功能、信息处理速度和注意力方面存在神经心理学损害，而一般智力功能、记忆、命名、感知功能和整体认知功能保持正常。法布里病患者的抑郁症患病率在15%至62%之间，迄今为止最大规模的研究报告患病率为46%。与抑郁症相关的最常见因素是神经性疼痛，它通过影响社会和适应功能直接或间接地导致抑郁症。
我们的综述表明，法布里病可能与一种特征性的认知缺陷模式以及抑郁症等心理障碍的高患病率相关，但突出了现有数据的局限性。使用标准化神经心理学评估、脑成像和抑郁症测量方法探索法布里病认知损害的本质是未来研究的一项重要任务。
