PRDM12先天性无痛觉患者诊断与管理的临床特征
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.
作者信息
Zhang Stella, Malik Sharif Saghira, Chen Ya-Chun, Valente Enza-Maria, Ahmed Mushtaq, Sheridan Eamonn, Bennett Christopher, Woods Geoffrey
机构信息
School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.
The Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
出版信息
J Med Genet. 2016 Aug;53(8):533-5. doi: 10.1136/jmedgenet-2015-103646. Epub 2016 Mar 14.
Abstract
BACKGROUND
Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported.
METHODS
We have ascertained five adult patients and report their clinical features.
RESULTS
Based on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients.
CONCLUSIONS
PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications.
摘要
背景
先天性无痛觉（CIP）是一种罕见的极端表型，其特征是由于伤害感受器缺乏或功能异常，导致从出生起就无法感知疼痛。PRDM12最近被确定为一种可导致CIP的新基因。其完整的表型和自然病史尚未见报道。
方法
我们确定了5例成年患者，并报告了他们的临床特征。
结果
基于我们的发现以及之前患者的发现，我们描述了PRDM12-CIP疾病的自然病史，并得出诊断和管理特征以指导患者的临床管理。
结论
PRDM12-CIP是一种独特且可诊断的疾病，需要特定的临床管理以将可预测的并发症降至最低。
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