Crockett Cameron D, Bertrand Laura A, Cooper Christopher S, Rahhal Riad M, Liu Ke, Zimmerman M Bridget, Moore Steven A, Mathews Katherine D
From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.
Neurology. 2015 Feb 3;84(5):532-9. doi: 10.1212/WNL.0000000000001213. Epub 2015 Jan 7.
To determine the frequency of urologic and gastrointestinal (GI) symptoms in a cohort of individuals with dystroglycanopathy compared with healthy household controls.
Participants in a North American dystroglycanopathy natural history study (NCT00313677) and other members of their households completed a questionnaire modified from validated instruments and clinical criteria. Urologic and GI symptom frequency, effect on patient life, and medications taken for these symptoms were assessed. Those younger than 4 years or not toilet trained were excluded. Healthy human bladder, esophagus, and duodenum from surgical specimens were immunostained for glycosylated α-dystroglycan.
Thirty of 58 potential participants with dystroglycanopathy (51.7%) and 16 household controls participated. Subjects were aged 6 to 51 years (mean 26.7); 60.0% were female. Controls were aged 7 to 55 years (mean 34.6); 56.3% were female. The dystroglycanopathy cohort had higher frequency of urinary voiding symptoms (p = 0.02), higher urologic symptom scores (p = 0.05), and higher dysphagia symptom scores (p = 0.04). A correlation existed between urologic symptom score and effect on life (r = 0.71; 95% confidence interval 0.46, 0.85; p < 0.0001) and between dysphagia symptom score and effect on life (r = 0.72; 95% confidence interval 0.48, 0.86; p < 0.0001). Glycosylated α-dystroglycan was present in visceral smooth muscle of all normal tissues analyzed.
Urologic symptoms and dysphagia are reported more frequently by individuals with dystroglycanopathies than by household controls. These symptoms can cause a perceived negative effect on patient life. Our results suggest urologic and GI dysfunction may be part of the dystroglycanopathy phenotype, and that questions about these symptoms should be incorporated into routine care because they may influence medical management.
确定与健康家庭对照相比，一组糖基化肌营养不良蛋白病患者的泌尿系统和胃肠道（GI）症状的发生率。
北美糖基化肌营养不良蛋白病自然史研究（NCT00313677）的参与者及其家庭中的其他成员完成了一份根据经过验证的工具和临床标准修改的问卷。评估了泌尿系统和胃肠道症状的发生率、对患者生活的影响以及针对这些症状所服用的药物。排除了4岁以下或未接受如厕训练的儿童。对手术标本中的健康人膀胱、食管和十二指肠进行糖基化α-肌营养不良蛋白免疫染色。
58名潜在的糖基化肌营养不良蛋白病患者中有30名（51.7%）和16名家庭对照参与。受试者年龄在6至51岁之间（平均26.7岁）；60.0%为女性。对照者年龄在7至55岁之间（平均34.6岁）；56.3%为女性。糖基化肌营养不良蛋白病队列的排尿症状发生率更高（p = 0.02）、泌尿系统症状评分更高（p = 0.05）以及吞咽困难症状评分更高（p = 0.04）。泌尿系统症状评分与对生活的影响之间存在相关性（r = 0.71；95%置信区间0.46，0.85；p < 0.0001），吞咽困难症状评分与对生活的影响之间也存在相关性（r = 0.72；95%置信区间0.48，0.86；p < 0.0001）。在所分析的所有正常组织的内脏平滑肌中均存在糖基化α-肌营养不良蛋白。
糖基化肌营养不良蛋白病患者报告的泌尿系统症状和吞咽困难比家庭对照更频繁。这些症状可对患者生活产生明显的负面影响。我们的结果表明，泌尿系统和胃肠道功能障碍可能是糖基化肌营养不良蛋白病表型的一部分，并且关于这些症状的问题应纳入常规护理，因为它们可能影响医疗管理。
