Phenotypic variation in functional disorders of defecation
Phenotypic variation in functional disorders of defecation
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DOI：
10.1053/j.gastro.2005.03.021
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发表时间：
2005-05-01
期刊：
影响因子：
29.4
通讯作者：
Zinsmeister, AR
中科院分区：
文献类型：
--
作者：
Bharucha, AE;Fletcher, JG;Zinsmeister, AR
背景和目标：虽然排便障碍通常归因于骨盆底协同失调，临床观察表明更广泛的肛门直肠紊乱。我们的目的是通过肛门直肠评估来表征便秘患者的表型变异。研究方法：在52名便秘妇女和4：1年龄匹配的无症状妇女中评估肛门压力、直肠气囊排出、直肠感觉、骨盆底结构（通过肛门内磁共振成像）和运动（通过动态磁共振成像）。通过对这些测量值进行主成分分析，对患者的表型进行表征。结果：16例患者有高血压的肛门括约肌，41例有异常的直肠气囊排出试验，20例有异常的直肠感觉。49例患者（94%）在排空和/或挤压过程中出现盆底运动异常。校正年龄和体重指数后，3个主成分解释了710/c的患者间方差。这些因素的权重最大的是排便时会阴下降（因素1），休息时肛门直肠位置（因素2）和肛门静息压（因素3）。因素1和3区分控制和患者。与会阴下降正常（n = 23）或减少（n = 18）的患者相比，下降增加（n = 11）的患者更可能（P <90 mm Hg），并且直肠球囊排出试验结果正常。结论：这些观察结果表明，功能性排便障碍包括一个异质性实体，其亚特征可以是排便时会阴下降、静息时会阴位置和肛门静息压。需要进一步的研究来确定这些表型是否反映了这些疾病自然史的差异。
Background & Aims: Although obstructed defecation is generally attributed to pelvic floor dyssynergia, clinical observations suggest a wider spectrum of anorectal disturbances. Our aim was to characterize phenotypic variability in constipated patients by anorectal assessments. Methods: Anal pressures, rectal balloon expulsion, rectal sensation, and pelvic floor structure (by endoanal magnetic resonance imaging) and motion (by dynamic magnetic resonance imaging) were assessed in 52 constipated women and 4:1 age-matched asymptomatic women. Phenotypes were characterized in patients by principal components analysis of these measurements. Results: Among patients, 16 had a hypertensive anal sphincter, 41 had an abnormal rectal balloon expulsion test, and 20 had abnormal rectal sensation. Forty-nine patients (94%) had abnormal pelvic floor motion during evacuation and/or squeeze. After correcting for age and body mass index, 3 principal components explained 710/c: of variance between patients. These factors were weighted most strongly by perineal descent during evacuation (factor 1), anorectal location at rest (factor 2), and anal resting pressure (factor 3). Factors 1 and 3 discriminated between controls and patients. Compared with patients with normal (n = 23) or reduced (n = 18) perineal descent, patients with increased (n = 11) descent were more likely (P 90 mm Hg, and have a normal rectal balloon expulsion test result. Conclusions: These observations demonstrate that functional defecation disorders comprise a heterogeneous entity that can be subcharacterized by perineal descent during defecation, perineal location at rest, and anal resting pressure. Further studies are needed to ascertain if the phenotypes reflect differences in the natural history of these disorders.