Congenital insensitivity to pain - Orthopaedic manifestations
Congenital insensitivity to pain - Orthopaedic manifestations
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DOI：
10.1302/0301-620x.84b2.11939
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发表时间：
2002-03-01
影响因子：
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通讯作者：
Steinberg, T
中科院分区：
文献类型：
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作者：
Bar-On, E;Weigl, D;Steinberg, T
我们回顾了13例先天性疼痛不敏感的患者。其中5人进行了定量汗液测试，10人进行了皮内组胺测试。DNA检查显示4名患者有特定的突变。有三种临床表现：A型，发生多次感染（5例）；B型为骨折、生长障碍和缺血性坏死（3例），C型为Charcot关节病和关节脱位，以及骨折和感染（5例，4例智力低下）。患者教育、鞋履和非负重期对预防和早期治疗褥疮很重要。骨折和感染的鉴别应基于抽吸和培养，以防止不必要的手术。确定的感染应通过广泛的手术清创来治疗。畸形可以通过矫正性截骨术和通过鞋抬高或表皮成形术来缩短。关节脱位最好保守治疗。
We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth disturbances and avascular necrosis (three patients), and type C, with Charcot arthropathies and joint dislocations, as well as fractures and infections (five patients, four with mental retardation).Patient education, shoeware and periods of non-weight-bearing are important in the prevention and early treatment of decubitus ulcers. The differentiation between fractures and infections should be based on aspiration and cultures to prevent unnecessary surgery. Established infections should be treated by wide surgical debridement. Deformities can be managed by corrective osteotomies, and shortening by shoe raises or epiphysiodesis. Joint dislocations are best treated conservatively.