Vardy P A, Greenberg L W, Kachel C, de Leon G F
Am J Dis Child. 1979 Nov;133(11):1153-5. doi: 10.1001/archpedi.1979.02130110061011.
Congenital indifference to pain with anhydrosis (CIPA) is a well-defined entity among a group of sensory deficiency syndromes. Children with this genetic disease are insensitive to pain and temperature and do not sweat and suffer from psychomotor retardation. Self-inflicted trauma may be severe and lead to insoluble orthopedic problems. To date, 11 cases have been reported. We have reviewed the literature and are describing two girls with CIPA, born to consanguine Jewish parents of Moroccan origin. Immunoglobulin deficiency has been reported in CIPA but an immunologic investigation on one of our cases showed only an early and transient deficiency of IgA. The presence in the family of a brother with ataxia telangiectasia and complete absence of IgA would seem to be irrelevant and it seems probable that the parents are heterozygotic for two disparate autosomal recessive syndromes.
先天性无痛觉伴无汗症（CIPA）是一组感觉缺陷综合征中一个明确的病种。患有这种遗传性疾病的儿童对疼痛和温度不敏感，不出汗，并伴有精神运动发育迟缓。自残性创伤可能很严重，并导致难以解决的骨科问题。迄今为止，已报道11例。我们回顾了文献，并描述了两名患有CIPA的女孩，她们的父母是来自摩洛哥的近亲犹太裔。CIPA患者曾有免疫球蛋白缺乏的报道，但我们对其中一例患者的免疫学调查仅显示IgA早期短暂缺乏。家族中有一名患有共济失调毛细血管扩张症且完全缺乏IgA的兄弟，这似乎并无关联，而且父母很可能是两种不同常染色体隐性综合征的杂合子。
