RESUMO
Purpose To assess the prevalence of LUTS, urinary tract and urodynamics changes in patients with Friedreich's Ataxia (FA), the most common form of hereditary ataxia. Materials and Methods This study evaluated 258 patients with genetically confirmed diagnoses of FA. Of the patients, 158 responded to a questionnaire which assessed their urinary symptoms. Patients with clinical changes underwent renal function examinations, ultrasound, and urodynamic studies (UDS). Results The sample analyzed showed that 82% of the patients complained of LUTS, although only 22% related the symptoms with quality of life impairment. Twenty eight (18%) of them agreed to undergo urodynamic evaluation. Urgency was the most common symptom. The exam was normal in 4 (14%) and detrusor underactivity was the most common finding. 14% (4 patients) presented with dilatation of the upper urinary tract at ultrasound scans. None of them had creatinine alterations. Conclusions LUTS was found in a large percentage of patients with FA, but only a few related it to their quality of life impairment. Although creatinine levels was normal in this sample, some patients may show upper urinary tract abnormalities, with deserves close observation and proper care. .
Assuntos
Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Ataxia de Friedreich/fisiopatologia , Sintomas do Trato Urinário Inferior/fisiopatologia , Bexiga Urinária/fisiopatologia , Urodinâmica/fisiologia , Brasil/epidemiologia , Sintomas do Trato Urinário Inferior/epidemiologia , Prevalência , Fatores Sexuais , Inquéritos e Questionários , Fatores de Tempo , Transtornos Urinários/fisiopatologiaRESUMO
PURPOSE: To assess the prevalence of LUTS, urinary tract and urodynamics changes in patients with Friedreich's Ataxia (FA), the most common form of hereditary ataxia. MATERIALS AND METHODS: This study evaluated 258 patients with genetically confirmed diagnoses of FA. Of the patients, 158 responded to a questionnaire which assessed their urinary symptoms. Patients with clinical changes underwent renal function examinations, ultrasound, and urodynamic studies (UDS). RESULTS: The sample analyzed showed that 82% of the patients complained of LUTS, although only 22% related the symptoms with quality of life impairment. Twenty eight (18%) of them agreed to undergo urodynamic evaluation. Urgency was the most common symptom. The exam was normal in 4 (14%) and detrusor underactivity was the most common finding. 14% (4 patients) presented with dilatation of the upper urinary tract at ultrasound scans. None of them had creatinine alterations. CONCLUSIONS: LUTS was found in a large percentage of patients with FA, but only a few related it to their quality of life impairment. Although creatinine levels was normal in this sample, some patients may show upper urinary tract abnormalities, with deserves close observation and proper care.
Assuntos
Ataxia de Friedreich/fisiopatologia , Sintomas do Trato Urinário Inferior/fisiopatologia , Bexiga Urinária/fisiopatologia , Urodinâmica/fisiologia , Adulto , Brasil/epidemiologia , Feminino , Humanos , Sintomas do Trato Urinário Inferior/epidemiologia , Masculino , Prevalência , Fatores Sexuais , Inquéritos e Questionários , Fatores de Tempo , Transtornos Urinários/fisiopatologia , Adulto JovemRESUMO
The study evaluated the prevalence of clinical and urodynamic findings in the lower urinary tract of patients with Machado-Joseph (MJ) disease. One hundred twenty-two patients were retrospectively evaluated; 17 (13.9%) presented lower urinary tract dysfunction, 10 of them were women. The average age was 41.6 years. Urgency was found in 15 patients and incontinence in nine. The urodynamic study showed detrusor overactivity in eight patients, areflexia in one, and four with normal detrusor contractility. Bladder sensitivity was abnormal in six, bladder capacity was decreased in one, urine flow decreased in 13, post-voiding residue was greater than 100 ml in nine. We could not find sphincter dyssynergia. The average cytosine-adenine-guanine (CAG) repetition was higher in patients with abnormal detrusor contraction (89.9) than in patients with normal urodynamics (68.2) (p = 0.03). There was no statistical significance when comparing the averages of replicates for people with and without urgency urinary incontinence (p = 0.27 and p = 0.5, respectively). The rate of lower urinary tract dysfunction in patients with MJ disease was around 14%. The urodynamic study showed predominance of detrusor overactivity and urgency as the most common symptom. We found an association between the total number of CAG repetitions and changes in detrusor contractility.