SARAH Network of Rehabilitation Hospitals, Salvador, BA, Brazil.
Int Braz J Urol. 2013 Nov-Dec;39(6):867-74. doi: 10.1590/S1677-5538.IBJU.2013.06.14.
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.
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).
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.
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.
评估弗里德里希共济失调（FA）患者的下尿路症状（LUTS）、尿路和尿动力学变化的发生率，FA 是最常见的遗传性共济失调类型。
本研究评估了 258 名经基因确诊的 FA 患者。其中 158 名患者对评估其尿症状的问卷做出了回应。有临床变化的患者接受了肾功能检查、超声检查和尿动力学研究（UDS）。
分析的样本显示，82%的患者抱怨有 LUTS，尽管只有 22%的患者将症状与生活质量受损相关联。其中 28 名（18%）同意进行尿动力学评估。最常见的症状是尿急。4 名（14%）患者的检查结果正常，表现为逼尿肌活动低下。14%（4 名患者）的超声检查显示上尿路扩张。他们的肌酸酐水平均无改变。
在大量 FA 患者中发现了 LUTS，但只有少数患者将其与生活质量受损相关联。尽管本样本的肌酸酐水平正常，但一些患者可能会出现上尿路异常，需要密切观察和适当护理。
