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遗传性痉挛性截瘫患者的尿动力学障碍。

Urological dysfunction in patients with hereditary spastic paraplegia.

机构信息

Inserm U1179, UFR des sciences de la santé, University of Versailles Saint-Quentin, Montigny-le-Bretonneux, France.

Department of Physical Medicine and Rehabilitation, APHP-Raymond-Poincaré Hospital, Garches, France.

出版信息

Neurourol Urodyn. 2019 Apr;38(4):1081-1085. doi: 10.1002/nau.23957. Epub 2019 Mar 8.

DOI:10.1002/nau.23957
PMID:30848841
Abstract

AIMS

Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with hereditary spastic paraplegia (HSP), and to characterize LUTS management and associated uronephrological complications.

METHODS

We retrospectively reviewed medical files of HSP patients, consecutively followed in our Physical and Rehabilitation Medicine Department between 1999 and 2016. Clinical, urodynamic, and radiological data were collected and analyzed. Different treatments which have been prescribed and uronephrological complications were also recorded. Patients with other neurological or urological diseases were excluded.

RESULTS

Thirty-three patients with HSP were included. Mean duration of follow-up was 8.1 ± 5 years, mean age 62 ± 14 years, and 70% were men. The most frequent LUTS was urgency and voiding dysfunction (both 69.7%). Incontinence and retention with a significant postvoid residue above 100 mL accounted for 66.7% and 57.6% of initial symptoms respectively. Neurogenic detrusor overactivity was diagnosed in 80.7% of patients. Two-thirds of our cohort were treated with anticholinergics and 9.1% required intradetrusor botulinum-toxin injections. Only 27.3% of patients performed clean intermittent self-catheterization. Febrile urinary tract infections (21.2%), urolithiasis (15,1%), hydronephrosis (6%), and chronic renal failure (9.1%) were found.

CONCLUSION

Given their high prevalence and the risk of uronephrological complications, LUTS should be systematically assessed in HSP patients. The systematic screening of urological dysfunction in this population would improve its management, decrease the incidence of uronephrological complications, and increase the quality of life.

摘要

目的

本研究旨在描述遗传性痉挛性截瘫(HSP)患者的下尿路症状(LUTS)和相关尿动力学模式,并描述 LUTS 的治疗方法及相关尿肾并发症。

方法

我们回顾性分析了 1999 年至 2016 年期间在我院物理医学与康复科连续就诊的 HSP 患者的病历。收集并分析了临床、尿动力学和影像学数据。还记录了不同的治疗方法和尿肾并发症。排除了患有其他神经或泌尿科疾病的患者。

结果

共纳入 33 例 HSP 患者。平均随访时间为 8.1±5 年,平均年龄为 62±14 岁,70%为男性。最常见的 LUTS 是尿急和排尿功能障碍(均为 69.7%)。失禁和潴留,伴有 100ml 以上的显著残余尿量,分别占初始症状的 66.7%和 57.6%。80.7%的患者被诊断为神经源性逼尿肌过度活动。我们队列中的三分之二的患者接受了抗胆碱能药物治疗,9.1%的患者需要进行膀胱内肉毒毒素注射。只有 27.3%的患者进行了清洁间歇性自我导尿。发热性尿路感染(21.2%)、尿路结石(15.1%)、肾积水(6%)和慢性肾衰竭(9.1%)。

结论

鉴于其高患病率和尿肾并发症的风险,应在 HSP 患者中系统评估 LUTS。对该人群进行泌尿科功能的系统筛查,将改善其管理,降低尿肾并发症的发生率,并提高生活质量。

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引用本文的文献

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Underactive Bladder and Detrusor Underactivity: New Advances and Prospectives.膀胱过度活动症和逼尿肌活动低下:新进展与展望。
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A novel mutation in the gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.
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Front Genet. 2022 Jul 14;13:936292. doi: 10.3389/fgene.2022.936292. eCollection 2022.