与SCN9A通道病相关的常染色体隐性遗传性先天性无痛症。病例报告。
SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain. A case report.
作者信息
Rajasekharan S, Martens L, Domingues L, Cauwels R
机构信息
Department of Paediatric Dentistry & Special Care, PAECOMEDIS research cluster, Ghent University, Ghent, Belgium.
出版信息
Eur J Paediatr Dent. 2017 Mar;18(1):66-68. doi: 10.23804/ejpd.2017.18.01.14.
BACKGROUND
Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene.
CASE REPORT
A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unaccounted dental trauma episodes were frequently reported. Preventive instructions and possible treatment modalities were discussed with the parents.
CONCLUSION
The cornerstone of treating CIP patients is an extensive preventive approach alongside regular oral examination at home by parents as well as routine recall appointments with dentists.
背景
先天性无痛觉（CIP）是一种罕见病症，它会抑制患者感知身体疼痛的能力，但其他感觉方式保持正常。该病症已被定位为染色体2q 24.3上的常染色体隐性性状，与SCN9A基因突变有关。
病例报告
一名2岁的白种女性患有先天性无痛觉。经常有咬伤、舌部伤口和不明原因的牙齿外伤事件的报告。与家长讨论了预防措施和可能的治疗方式。
结论
治疗先天性无痛觉患者的关键是采取广泛的预防措施，同时家长要在家中定期进行口腔检查，并按常规带孩子去看牙医复诊。
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