Knowles C H, Scott S M, Wellmer A, Misra V P, Pilot M A, Williams N S, Anand P
Academic Department of Neurology, St Bartholomew's and the Royal London School of Medicine and Dentistry, UK.
Br J Surg. 1999 Jan;86(1):54-60. doi: 10.1046/j.1365-2168.1999.00994.x.
Slow-transit constipation (STC) is a severe disorder of unknown aetiology, which may result from an autonomic or sensory neuropathy. This study aimed to investigate patients with STC for the presence of neural dysfunction, and relate the findings to other factors, including any familial associations.
Thirty-three patients with STC were studied using standard neurophysiological tests and a range of quantitative sensory and autonomic tests. The findings were compared with those of 20 matched control subjects and nine diabetic patients with gastrointestinal symptoms.
Twenty of the 33 patients with STC gave a family history of constipation, including an affected identical twin and Hirschsprung's disease (n = 3). None had abnormalities on neurological examination or nerve conduction studies. Fifteen of the 33 patients had abnormalities on quantitative tests, including all six who required a colectomy. Eleven patients with STC had reduced axon-reflex sweating in the presence of normal sweat gland responses (P < 0.001, all patients with STC versus controls). Twelve patients with STC had small sensory fibre dysfunction, with significantly increased thermal thresholds (cool, P < 0.05; warm, P < 0.01); these included six of nine patients with STC and rectal hyposensation. There were similar findings on quantitative testing in diabetic patients.
Quantitative tests in patients with STC provide evidence of a small fibre neuropathy. The high incidence of a positive family history, particularly a possible association with Hirschsprung's disease, suggests a genetic basis, which deserves further investigation.
慢传输型便秘(STC)是一种病因不明的严重疾病,可能由自主神经或感觉神经病变引起。本研究旨在调查STC患者是否存在神经功能障碍,并将研究结果与其他因素相关联,包括任何家族关联。
对33例STC患者进行了标准神经生理学测试以及一系列定量感觉和自主神经测试。将研究结果与20名匹配的对照受试者和9例有胃肠道症状的糖尿病患者的结果进行比较。
33例STC患者中有20例有便秘家族史,包括1例受累同卵双胞胎和3例先天性巨结肠病患者。所有患者神经系统检查和神经传导研究均无异常。33例患者中有15例定量测试异常,包括所有6例需要行结肠切除术的患者。11例STC患者在汗腺反应正常的情况下轴突反射性出汗减少(P < 0.001,所有STC患者与对照组相比)。12例STC患者存在小感觉纤维功能障碍,热阈值显著升高(冷,P < 0.05;温,P < 0.01);其中9例STC合并直肠感觉减退患者中有6例。糖尿病患者的定量测试也有类似结果。
STC患者的定量测试提供了小纤维神经病变的证据。阳性家族史的高发生率,特别是与先天性巨结肠病的可能关联,提示存在遗传基础,值得进一步研究。