Objective

Hereditary spastic paraplegia (HSP) represents a clinically and genetically heterogeneous group of neurodegenerative diseases, with a worldwide estimated prevalence of 1.3/100,000 . The “pure” form of HSP is a characterized by a progressive spastic paraplegia, often associated with lower urinary tract symptoms (LUTS) (72.4% to 77.6%) . However, urologic complications are rarely reported. The aim of this study was to characterize clinical and urodynamic aspects of LUTS following HSP, and to describe treatment and urological complications of LUTS in a large series of HSP patients.

Materials/patients and methods

We performed a monocentric retrospective evaluation based on review of medical records of HSP patients admitted in the department of PRM from 1999 to 2016. Inclusion criteria were patients > 18 years. Presenting HSP. Clinical, urodynamic and radiologic data were recorded. Statistical analysis was performed using Microsoft Excel software.

Results

Thirty-three HSP patients were included. Mean age was 62 ± 14 years with 70% of men. The mean follow-up was 8.10 ± 5 years. Patients presented LUTS: urgency (85%), hesitancy (85%), nocturia (56%) and urinary incontinence (54%). The post-void residual volume (PVR) was over 100 mL in 70%. NDO was diagnosed according to urodynamic testing in 83% of patients, associated in 76% of them with a detrusor-sphinctger-dyssinergia (DSD). HSP patients were exposed to urologic–nephrologic complications: febrile urinary tract infections (25%), urolithiasis (21%), hydronephrosis (8%) and renal failure (17%).

HSP patients have been mainly treated with anticholinergics (69%) and 10% were switched to intradetrusor botulinum toxin. Clean intermittent catheterization was performed by 30% of patients. Three patients underwent a non-continent surgical urinary diversion.

Discussion/conclusion

A significant percentage of HSP patients presenting LUTS mainly resulting of the association of PVR, DO and DSD. However, for the first time, uro-nephrologic complications following LUTS related to HSP are underlined. Thus, HSP patients should be assessed, such as SCI patients, in order to improve management and HSP patients’ quality of life with a decrease of uro-nephrologic complications.