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弗里德里希共济失调患者队列的尿、肠和性功能症状。

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

机构信息

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG, UK.

Department of Uro-Neurology, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London, UK.

出版信息

Orphanet J Rare Dis. 2017 Sep 26;12(1):158. doi: 10.1186/s13023-017-0709-y.

Abstract

BACKGROUND

Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.

METHODS

Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living.

RESULTS

80% (n = 46/56) of patients reported LUTS, 64% (n = 38/59) reported bowel symptoms and 83% (n = 30/36) reported sexual symptoms. Urinary and bowel or sexual symptoms were significantly likely to co-exist among patients. Late-onset FRDA patients were also more likely to report LUTS than early-onset ones. Patients with a longer disease duration reported higher LUTS scores and poorer quality of life scores related to urinary symptoms.

CONCLUSIONS

A high proportion of FRDA have symptoms suggestive of LUTS, bowel and sexual dysfunction. This is more marked with greater disease duration and later disease onset. These symptoms need to be addressed by clinicians as they can have a detrimental effect on patients.

摘要

背景

盆腔症状是弗里德里希共济失调症(FRDA)患者的痛苦症状。本研究旨在描述 FRDA 患者下尿路症状(LUTS)、肠道和性症状的患病率。

方法

采用描述性统计方法对 LUTS、肠道和性症状的问卷评分进行分析,包括整群和亚组(早发/晚发和早发/晚发 FRDA),并与经过验证的疾病严重程度测量指标相关联,包括共济失调严重程度、非共济失调症状和日常生活活动能力。

结果

80%(n=46/56)的患者报告存在 LUTS,64%(n=38/59)的患者报告存在肠道症状,83%(n=30/36)的患者报告存在性症状。患者中存在 LUTS 与肠道或性症状同时存在的可能性较大。晚发 FRDA 患者比早发患者更有可能报告存在 LUTS。疾病持续时间较长的患者报告存在更高的 LUTS 评分和与尿症状相关的更差的生活质量评分。

结论

相当比例的 FRDA 患者存在 LUTS、肠道和性功能障碍的症状。这种情况在疾病持续时间较长和发病较晚时更为明显。这些症状需要临床医生关注,因为它们会对患者产生不利影响。

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