摘要先天性无痛无汗症(Congenital insensitivity to pain with anhidrosis,CIPA)是一种以无汗及对疼痛刺激无反应为基本特征的遗传性疾病,常伴有反复发作、原因不明的发热、感染和精神发育迟滞。临床上对于CIPA容易误诊[1]。CIPA的主要发病人群是婴幼儿、儿童和青少年[2],发病率约为1/1.25亿[3]。目前全世界仅有200多例。20%的CIPA患者会在3岁前因为发热死亡[4-5]。
3KristienVerhoeven, Vincent Timmerman, Barbara Mauko,et al. Recent advances in hereditary sensory and autonomic neu ropathies[J]. Neurology, 2006, 19:474 480. 被引量：1
4Dyck PJ, Chance P, Lebo R, et al. Hereditary motor and sen- sory neuropathies[M]. In: Dyck PJ, Thomas PK, Grifn JW, et al. Peripheral neuropathy[M]. 3rd ed. Philadelphia, PA: W.B. SaundersCompany,1993= 1094 1136. 被引量：1
5Swanson AG. Congenital insensitivity to pain with anhydrosis. Arch Neurol, 1963, 8:299 -306. 被引量：1
6Dyck PJ, MeUinger JF, Reagan CJ, et al. Not indifference to pain but varieties of hereditary sensory and autonomic neuropathy. Brain,1983, 106:373 -390. 被引量：1
7Bonkowsky JL, Johnson J, Carey JC, et al. An infant with primary tooth loss and palmar hyperkemtosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhydrosis. Pediat-ries, 2003, 112:237 -241. 被引量：1
8Berkovitch M, Copelioviteh L, Tauber T, et al. Hereditary insensitivi- ty to pain with anhidrosis. Pediatr Neurol, 1998, 19:227 -229. 被引量：1
9Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the TRKA/ NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet, 1996, 13:485 -488. 被引量：1
10Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidtosis ( hereditary sensory and autonomic neuropathy typelV). Pediatr Neurol, 1994, 11:50-56. 被引量：1
