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先天性无痛无汗症并陈旧性骨折一例 被引量:3

Congenital insensitivity to pain with anhidrosis and old fracture: a case report
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摘要 先天性无痛无汗症又称遗传性感觉和自主神经障碍Ⅳ型,是一种罕见的先天性常染色体隐性遗传病.报道1例如下. 患儿男,3岁2个月,因右膝关节肿胀20 d于2009年5月4日入院.体检:右膝关节处肿胀,于膝关节前内侧可触及软组织包块,无移动,界限不清;右足肿胀.患儿无疼痛,用针刺全身各部位均无痛感.碘发汗定性试验和热发汗定性试验均证明无汗.既往史:其母陈述患有无汗症3年,全身各部位不出汗,反复发热.
出处 《中华放射学杂志》 CAS CSCD 北大核心 2010年第10期1060-1060,共1页 Chinese Journal of Radiology
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参考文献3

  • 1Dyck PJ,Mellinger JF,Reagan TJ,et al.Not indiference to pain but varieties of hereditary sensory and autonomic neuropathy.Brain,1983,106:373-390. 被引量:1
  • 2Swanson NA,Argenta LC.Tissue expansion.Adv Dermatol,1988,3:243-258. 被引量:1
  • 3Schulman H,Tsodikow V,Einhorn M,et al.Congenital insensitivity to pain with anhidrosis (CIPA):the spectrum of radiological findings.Pediatr Radiol,2001,31:701-705. 被引量:1

同被引文献36

  • 1刘沧君,鲁北,张孟增.先天性无痛症一例[J].放射学实践,2006,21(8):857-857. 被引量:3
  • 2史国萍,柳晓静,高娟,黄丽红.罕见先天性无痛症并无汗症患儿骨折1例[J].中医正骨,2007,19(2):6-6. 被引量:1
  • 3Dyek PJ, Mellinger JF, Reagan CJ, et al. Not indifference to pain but varieties of hereditary sensory and autonomic neuropathy. Brain, 1983,106:373. 被引量:1
  • 4Maehtei A Levv J, Friger M,et al. Osteomyelitis of the mandible in a group of 33 pediatric patients with eongenital insensitivity to pain with anhidrosis, lnt J Pediatr Otorhinolaryngol,2011,75 :523. 被引量:1
  • 5Kilic SS,Ozturk R,Sarisozen B,et al. Humoral immunodefieiency in congenital insensitivity to pain with anhidrosis. Neurogenetics,2009, 10:161. 被引量:1
  • 6Swanson NA, Argenta LC. Tissue expansion. Adv Dermatol, 1988,3 : 243. 被引量:1
  • 7Verpoorten N, Claeys KG, Deprez L, et al. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1 ) associated with hereditary sensory neuropathy type IV. Neuromuscul Disord,2006,16:19. 被引量:1
  • 8李伟强,郭跃明,汪启筹,等.先天性无痛无汗症并发习惯性髋关节脱位一例.中华骨伤,2010,23:388. 被引量:1
  • 9Sztriha L, Lestringant GG, Hertecant J, et al. Congenital insensitivity to pain with anhidrosis. Pediatr Nemrol,2001,25:6Z,. 被引量:1
  • 10Achouri E,Gribaa M, Bouguila J,et al. Hereditary sensory and auto- nomic neuropathy type IV:a report on two cases. Arch Pediatr, 2011,18:390. 被引量:1

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