Vázquez-Costa Juan Francisco, Arlandis Salvador, Hervas David, Martínez-Cuenca Esther, Cardona Fernando, Pérez-Tur Jordi, Broseta Enrique, Sevilla Teresa
Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain; Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain.
Department of Urology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
J Neurol Sci. 2017 Jul 15;378:130-136. doi: 10.1016/j.jns.2017.04.053. Epub 2017 May 2.
Lower urinary tract symptoms (LUTS) are frequent in motor neuron disease (MND) patients, but clinical factors related to them are unknown. We describe differences in LUTS among MND phenotypes and their relationship with other clinical characteristics, including prognosis.
For this study, we collected clinical data of a previously published cohort of patients diagnosed with classical amyotrophic lateral sclerosis (cALS), progressive muscular atrophy (PMA) or primary lateral sclerosis (PLS) with and without LUTS. Familial history was recorded and the C9ORF72 expansion was analysed in the entire cohort. Patients were followed-up for survival until August 2016.
Fifty-five ALS patients (37 cALS, 10 PMA and 8 PLS) were recruited. Twenty-four reported LUTS and neurogenic bladder (NB) could be demonstrated in nine of them. LUTS were not influenced by age, phenotype, disability, cognitive or behavioural impairment, or disease progression, but female sex appeared to be a protective factor (OR=0.39, p=0.06). Neither family history nor the C9ORF72 expansion was linked to LUTS or NB. In the multivariate analysis, patients reporting LUTS early in the disease course tended to show poorer survival.
In this study, LUTS appear to be more frequent in male MND patients, but are not related to age, clinical or genetic characteristics. When reported early, LUTS could be a sign of rapid disease spread and poor prognosis. Further prospective longitudinal and neuroimaging studies are warranted to confirm this hypothesis.
下尿路症状（LUTS）在运动神经元病（MND）患者中很常见，但与之相关的临床因素尚不清楚。我们描述了MND各表型中LUTS的差异及其与包括预后在内的其他临床特征的关系。
在本研究中，我们收集了先前发表的一组已确诊为经典肌萎缩侧索硬化症（cALS）、进行性肌肉萎缩（PMA）或原发性侧索硬化症（PLS）且有或无LUTS患者的临床数据。记录家族史并在整个队列中分析C9ORF72基因扩增情况。对患者进行生存随访直至2016年8月。
招募了55例ALS患者（37例cALS、10例PMA和8例PLS）。24例报告有LUTS，其中9例可证实存在神经源性膀胱（NB）。LUTS不受年龄、表型、残疾、认知或行为障碍或疾病进展的影响，但女性似乎是一个保护因素（OR = 0.39，p = 0.06）。家族史和C9ORF72基因扩增均与LUTS或NB无关。在多变量分析中，疾病病程早期报告有LUTS的患者往往生存较差。
在本研究中，LUTS在男性MND患者中似乎更常见，但与年龄、临床或遗传特征无关。如果在疾病早期报告，LUTS可能是疾病快速进展和预后不良的标志。需要进一步的前瞻性纵向研究和神经影像学研究来证实这一假设。
