Anaesthesia and orphan disease: sugammadex in a patient with Huntington's disease undergoing thyroid lobectomy.
Anaesthesia and orphan disease: sugammadex in a patient with Huntington's disease undergoing thyroid lobectomy.
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麻醉和孤儿病：舒更葡糖用于接受甲状腺叶切除术的亨廷顿病患者。
DOI：
10.1097/eja.0b013e328356472a
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发表时间：
2012
影响因子：
3.6
通讯作者：
A. Banerjee
中科院分区：
文献类型：
--
作者：
M. Khan;A. Banerjee
亨廷顿病是一种常染色体显性遗传性疾病，影响基底节，发病率为每10万人中有4至10人。发病年龄一般在30岁至50岁之间。也有青少年发病，症状在20岁之前开始；这种情况发生在10%的受影响人群中。后者更容易癫痫发作，葡萄糖代谢受损，通常从父亲那里以与性别相关的方式遗传疾病。基因测试可以确认诊断，即使是在产前。症状包括舞蹈动作、人格障碍以及吞咽和呕吐反射障碍。亨廷顿病患者的麻醉管理面临着特殊的挑战，因为肺吸入的风险和对麻醉药的反应改变。有报道称，在使用硫喷妥酮和琥珀胆碱后，出现了1至2小时的长时间呼吸暂停，并且对抗胆碱类药物的敏感性增加。这些患者是否存在低水平的非典型假性胆碱酯酶仍未得到回答。据我们所知，在亨廷顿病患者的麻醉管理中，以前没有使用糖化葡聚糖的报道。我们已经征得患者的书面同意，才能发表这份病例报告。
Huntington’s disease is an autosomal dominant disorder that affects the basal ganglia with a prevalence of four to 10 per 100 000 people. Onset is typically between 30 and 50 years of age. There is also a juvenile onset of the disease wherein the symptoms begin before aged 20; this occurs in 10% of affected persons. This latter group is more prone to seizures, has impaired glucose metabolism and often inherits the disease in a sex-linked manner from the father. Genetic tests can confirm the diagnosis, even prenatally. Symptoms include choreic movements, personality disorders and impairment of swallowing and gag reflexes. The anaesthetic management of a patient with Huntington’s disease provides particular challenges due to the risk of pulmonary aspiration and altered responses to anaesthetic drugs. Prolonged apnoea of between 1 and 2 h has been reported after the use of thiopentone and suxamethonium, and there is an increased sensitivity to anticholinergics. Whether these patients have low levels of atypical pseudocholinisterases remains unanswered. We know of no previous reports of the use of sugammadex in the anaesthetic management of patients with Huntington’s disease. We have obtained the patient’s written consent for publication of this case report.