Related Experiment Videos
Voiding dysfunction in x-linked adrenoleukodystrophy: symptom score and urodynamic findings
M Silveri1, M De Gennaro, C Gatti
1Department of Pediatric Surgery, "Bambino Gesù" Children Hospital, Palidoro, Rome, Italy. maxsilveri@tin.it
The Journal of Urology
|May 1, 2004
Summary
Adrenoleukodystrophy often causes neurogenic overactive bladder, impacting quality of life. Treatments like anticholinergics offered temporary symptom relief in this study.
Area of Science:
- Neurology
- Urology
- Genetics
Background:
- Adrenoleukodystrophy (ALD) is an X-linked genetic disorder causing myelin sheath breakdown and adrenal dysfunction.
- Lower urinary tract symptoms (LUTS) significantly affect ALD patients' quality of life.
- Urodynamic studies in ALD are rare, with limited understanding of prevalent urinary patterns.
Purpose of the Study:
- To investigate the urodynamic patterns in patients with various phenotypes of Adrenoleukodystrophy.
- To establish the prevalence of lower urinary tract symptoms and their correlation with neurological involvement in ALD.
Main Methods:
- 14 patients (8-53 years) with different ALD phenotypes underwent evaluation.
- A screening protocol included the International Conference on Incontinence Questionnaire-Short Form (ICIQ-SF) and a 3-day voiding diary.
- Patients were categorized into groups based on symptoms and underwent uroflowmetry, post-voiding residual urine measurement, or standard urodynamic examination.
Main Results:
- Neurogenic overactive bladder was the predominant urodynamic finding in 6 out of 7 patients evaluated.
- Hypocontractility of the bladder was observed in one patient.
Conclusions:
- Vesicosphincteric dysfunction in ALD is likely linked to spinal and/or cerebral neurological involvement.
- Anticholinergics and neuromodulation provided temporary symptom improvement and enhanced quality of life in a subset of patients.