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SCN9A突变变体中疼痛敏感性的极端情况:病例报告与文献综述

Extreme Ends of Pain Sensitivity in SCN9A Mutation Variants: Case Report and Literature Review.

作者信息

Majeed Muhammad Hassan, Ubaidulhaq Muhammad, Rugnath Anesh, Eriator Ike

机构信息

Dr. Majeed is Attending Psychiatrist with the Department of Psychiatry at Natchaug Hospital in Norwich, Connecticut.

Dr. Ubaidulhaq is Pain Medicine Fellow with the Department of Anesthesiology at University of Mississippi Medical Center in Jackson, Mississippi.

出版信息

Innov Clin Neurosci. 2018 Nov 1;15(11-12):33-35.

PMID:30834170
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6380612/
Abstract

Pain insensitivity disorders are rare; however, when individuals are insensitive to pain, they are significantly more vulnerable to physical injuries, with higher morbidity and mortality rates, compared with the general population. The authors present the case of an 11-month-old male infant with SCN 9A gene mutation that resulted in congenital insensitivity to pain, while his mother, with a different mutation of the same gene, had hypersensitivity to pain. This is a rare familial presentation of the extreme ends of pain sensitivity, and might be the first such example in medical literature. There is little available information regarding the treatment of pain insensitivity disorders. The authors provide a brief discussion regarding diagnosis (including differentials), known etiology, and treatment of congenital insensitivity to pain, of which a multidisciplinary treatment approach is recommended.

摘要

疼痛不敏感障碍很罕见;然而,当个体对疼痛不敏感时,与普通人群相比,他们更容易受到身体伤害,发病率和死亡率更高。作者介绍了一名11个月大的男婴病例,该男婴存在SCN 9A基因突变,导致先天性疼痛不敏感,而他的母亲同一基因发生了不同的突变,对疼痛敏感。这是疼痛敏感性极端情况的一种罕见家族表现,可能是医学文献中的首个此类例子。关于疼痛不敏感障碍的治疗,可用信息很少。作者简要讨论了先天性疼痛不敏感的诊断(包括鉴别诊断)、已知病因和治疗,建议采用多学科治疗方法。

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Preimplantation Genetic Diagnosis for Mendelian Conditions.孟德尔疾病的植入前基因诊断
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A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.先天性痛觉缺失症中 SCN9A 基因突变的无义突变。
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