先天性無痛無汗症の日常生活の実態

Investigation of daily lives in patients with hereditary sensory and autonomic neuropathy(Type4)

要旨：先天性無痛無汗症は，全身性の無痛覚と無発汗を主徴とした極めて稀な神経疾患である．患者とその家族の日常生活の実態と問題の対処方法を調査する目的で，家庭訪問による面接を行った．対象は10例，平均15.0±7.8歳．全例で夏期に発熱が必発したが，親は体温調節障害と他の疾病による発熱を見分けていた．皮膚は乾燥・角化や亀裂・創傷が9例（90％）に認められ，自傷行為は9例にあった．骨折が8例にあり，6例は複数回（2〜6回）経験し，骨髄炎6例，脱臼4例，異常姿勢7例が認められた．夏期は自宅での生活になりがちであり（10例），遊びに関する親の悩み（9例）は，骨折，外傷及び感染の予防のため遊びや活動の制限であったが，児の能力向上に前向きの姿勢が認められた．

　The purpose of this study was to clarify how patients with hereditary sensory and autonomic neuropathy (Type 4) and their families spent their lives and coped with difficulties induced by the disease. In August 1999, we interviewed 10 patients (6 male and 4 female) and their parents, who belonged to the patients' association, "Tomorrow". The mean age of the patients was 15. 0±7.8 years (ranged from 5 to 28 years). All the patients suffered from hyperthermia particularly during summertime, although their parents carefully differentiated it from febrile episodes associated with other diseases. Skin symptoms were found in 9 (90%) patients. The skin was dry, cracked and traumatically injured, conditions that are not easily curable. Self-destructive biting of the lips, the tongue and the fingers was found in 9 patients. Eight patients suffered from fractures, and in 6 of them fractures had been recurrent. Six patients suffeed from myelitis, and dislocation of the joint and demonstrated abnormal postures. Patients had constant worries that they had to limit their children's playing and activities in order to prevent additional injuries. The present investigation revealed that patients and their parents had many problems to be solved and needed guidelines for their daily lives.