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首页> 外文期刊>BMC Neurology >Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests
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Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

机译：法布里氏病的自主神经病：使用自主神经症状概况和心血管自主神经功能测试的前瞻性研究

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Background Fabry patients have symptoms and signs compatible with autonomic dysfunction. These symptoms and signs are considered to be due to impairment of the peripheral nervous system, but findings indicative of autonomic neuropathy in other diseases, such as orthostatic intolerance and male sexual dysfunction, are infrequently reported in Fabry disease. The aim of our study was to investigate autonomic symptoms and cardiovascular autonomic function in a large cohort of male and female Fabry patients. Methods Forty-eight Fabry patients (15 male, 30 treated with enzyme replacement therapy) and 48 sex- and age-matched controls completed a questionnaire on autonomic symptoms (the Autonomic Symptom Profile). Thirty-six Fabry patients underwent cardiovascular function tests. Results The Autonomic Symptom Profile revealed a significantly higher sum score in Fabry patients than in healthy control subjects (22 versus 12), but a relatively low score compared to patients with proven autonomic neuropathy. Fabry patients scored worse than healthy controls in the orthostatic intolerance domain. Scores in the male sexual dysfunction domain were comparable between healthy controls and male Fabry patients. The cardiovascular autonomic function tests revealed only mild abnormalities in seven patients. None of these seven patients showed more than one abnormal test result. Enzyme replacement therapy was not associated with less severe disease, lower ASP scores or less frequent abnormal cardiovascular function test results. Conclusions Male sexual function and autonomic control of the cardiovascular system are nearly normal in Fabry patients, which cast doubt on the general accepted assumption that autonomic neuropathy is the main cause of symptoms and signs compatible with autonomic dysfunction in Fabry disease. Possibly, end-organ damage plays a key role in the development of symptoms and signs in Fabry patients. An exceptional kind of autonomic neuropathy is another but less likely explanation.
机译：背景法布里（Fabry）患者的症状和体征与自主神经功能障碍兼容。这些症状和体征被认为是由于周围神经系统的损伤所致，但是在法布里疾病中很少报道表明在其他疾病中存在自主神经病的发现，例如体位性不耐受和男性性功能障碍。我们研究的目的是研究大量法布里男性和女性患者的自主神经症状和心血管自主功能。方法48名Fabry患者（15例男性，30例接受酶替代治疗）和48例性别和年龄相匹配的对照者完成了关于自主神经症状的问卷调查（Autonomic Symptom Profile）。 36名法布里（Fabry）患者接受了心血管功能测试。结果自主神经症状概况显示，法布里（Fabry）患者的总和得分显着高于健康对照受试者（22 vs 12），但与经证实具有自主神经病的患者相比，得分相对较低。法布里患者在立位不耐受领域的得分低于健康对照组。男性性功能障碍领域的得分在健康对照组和男性Fabry患者之间相当。心血管自主功能测试仅发现7例患者有轻度异常。这七名患者​​中没有一个显示出异常的检查结果。酶替代疗法与较轻的疾病，较低的ASP得分或较不频繁的异常心血管功能测试结果无关。结论法布里（Fabry）患者的男性性功能和对心血管系统的自主控制几乎是正常的，这使人们普遍认为自主神经病变是与法布里疾病中自主神经功能障碍相适应的主要症状和体征的假设令人怀疑。可能，末端器官损伤在法布里（Fabry）患者的症状和体征发展中起关键作用。另一种但不太可能的解释是一种特殊的自主神经病。

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