Camille S Corre1, Natalie Grant1, Reza Sadjadi1,2, Douglas Hayden2,3, Catherine Becker1, Pablo Gomery2,4, Florian S Eichler5,6. 1. Department of Neurology, Massachusetts General Hospital, 175 Cambridge Street, Suite 340, Boston, MA, 02114, USA. 2. Harvard Medical School, Boston, MA, USA. 3. Biostatistics Center, Massachusetts General Hospital, Boston, MA, USA. 4. Department of Urology, Massachusetts General Hospital, Boston, MA, USA. 5. Department of Neurology, Massachusetts General Hospital, 175 Cambridge Street, Suite 340, Boston, MA, 02114, USA. feichler@partners.org. 6. Harvard Medical School, Boston, MA, USA. feichler@partners.org.
Abstract
OBJECTIVE: To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation. METHODS: In this retrospective and prospective study, we performed medical record review (n = 103), analyzed the results of clinically indicated urodynamic testing (n = 11), and developed and distributed a symptom and quality of life (QOL) survey (n = 59). RESULTS: Urinary and bowel symptoms are highly prevalent in both males (75.0%) and females (78.8%) in this population, most commonly urinary urgency, often leading to incontinence. Time to onset of first urinary or bowel symptom occurs approximately a decade earlier in males. Seventy-two percent of symptomatic patients report a limitation to QOL. Urodynamic evaluation provides evidence of three distinct mechanisms underlying lower urinary tract dysfunction: involuntary detrusor contractions (indicating uncontrolled neuronal stimulation with or without leakage), motor underactivity of the bladder, and asynergy between detrusor contraction and sphincter relaxation. CONCLUSIONS: Beyond gait and balance difficulties, urinary and bowel symptoms are common in adults with ALD and impair QOL. Males are affected at a younger age but both sexes experience a higher symptom burden with age. As this population also experiences gait and balance impairment, patients with ALD are more vulnerable to urinary urgency leading to incontinence. Urodynamic evaluation may help better elucidate the pathophysiologic mechanisms underlying neurogenic lower urinary tract dysfunction, which can allow more targeted treatment.
OBJECTIVE: To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation. METHODS: In this retrospective and prospective study, we performed medical record review (n = 103), analyzed the results of clinically indicated urodynamic testing (n = 11), and developed and distributed a symptom and quality of life (QOL) survey (n = 59). RESULTS: Urinary and bowel symptoms are highly prevalent in both males (75.0%) and females (78.8%) in this population, most commonly urinary urgency, often leading to incontinence. Time to onset of first urinary or bowel symptom occurs approximately a decade earlier in males. Seventy-two percent of symptomatic patients report a limitation to QOL. Urodynamic evaluation provides evidence of three distinct mechanisms underlying lower urinary tract dysfunction: involuntary detrusor contractions (indicating uncontrolled neuronal stimulation with or without leakage), motor underactivity of the bladder, and asynergy between detrusor contraction and sphincter relaxation. CONCLUSIONS: Beyond gait and balance difficulties, urinary and bowel symptoms are common in adults with ALD and impair QOL. Males are affected at a younger age but both sexes experience a higher symptom burden with age. As this population also experiences gait and balance impairment, patients with ALD are more vulnerable to urinary urgency leading to incontinence. Urodynamic evaluation may help better elucidate the pathophysiologic mechanisms underlying neurogenic lower urinary tract dysfunction, which can allow more targeted treatment.
Authors: Lawrence R Schiller; Darrell S Pardi; Robin Spiller; Carol E Semrad; Christina M Surawicz; Ralph A Giannella; Guenter J Krejs; Michael J G Farthing; Joseph H Sellin Journal: J Gastroenterol Hepatol Date: 2014-01 Impact factor: 4.029
Authors: Jörn-Sven Kühl; Felipe Suarez; Godfrey T Gillett; Philipp G Hemmati; John A Snowden; Michael Stadler; Giang L Vuong; Patrick Aubourg; Wolfgang Köhler; Renate Arnold Journal: Brain Date: 2017-04-01 Impact factor: 13.501