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首页> 外文期刊>American journal of medical genetics, Part A >Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan
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Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan

机译：日本的IV型和V型遗传性感觉神经和自主神经病的流行病学

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Hereditary sensory and autonomic neuropathy (HASN) refers to a group of rare congenital disorders characterized by loss of pain sensation and other sensory or autonomic abnormalities. Among them, a relatively large proportion of patients with HSAN type IV, which is accompanied by anhidrosis and intellectual disability, are reported from Israel and Japan. HSAN type V, with normal sweating and mental development, is rarely reported in Japan. In 2009, we founded a research group for congenital insensitivity to pain and performed the first epidemiological survey of HSAN types IV and V in Japan. Questionnaires were sent to a total of 3,488 certified training institutions of five nationwide medical societies comprising pediatricians, neurologists, orthopedic surgeons, and dentists. Answers were obtained from 1,610 institutions, and 192 HSAN patients (152 with type IV and 28 with type V) were reported from 105 institutions. After excluding duplicated patients, we identified a total of 62 current, 36 past, and five deceased patients for HSAN-IV, and a total of 14 current, 13 past, and 0 deceased patients for HSAN-V. Using these figures, we estimated that the number of Japanese patients with HSAN types IV and V as 130-210 and 30-60 patients, respectively. We identified no gender differences, and patients with a family history of the disorder were limited to affected siblings in both conditions. Most patients with HSAN-IV were 5-40 years of age, whereas half of the patients with HSAN-V were 40 years or older.
机译：遗传性感觉和自主神经病（HASN）是指一组罕见的先天性疾病，其特征是疼痛感和其他感觉或自主神经异常丧失。其中，据以色列和日本报道，相对较大比例的IV型HSAN患者伴有多汗症和智力残疾。在日本很少报道具有正常出汗和智力发育的HSAN V型。 2009年，我们成立了先天性疼痛敏感性研究小组，并在日本进行了第一批HSAN IV型和V型流行病学调查。问卷被送往5个全国性医学会的3,488家经过认证的培训机构，其中包括儿科医生，神经科医生，整形外科医生和牙医。从1,610家机构获得了答案，并且有105家机构报告了192名HSAN患者（152名IV型患者和28名V型患者）。在排除重复患者后，我们确定了总共62例HSAN-IV的当前，36例过去和5例死者，以及总共14例HSAN-V的14例当前，13例过去和0例死者。使用这些数字，我们估计日本的HSAN IV型和V型患者人数分别为130-210和30-60。我们没有发现性别差异，并且有该家族病史的患者在两种情况下都仅限于受影响的兄弟姐妹。大多数HSAN-IV患者为5-40岁，而一半HSAN-V患者为40岁或更大。

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