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本文引用的文献

1
Transcriptional regulator PRDM12 is essential for human pain perception.转录调节因子PRDM12对人类疼痛感知至关重要。
Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25.
2
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus.先天免疫。神经生长因子 β 在脊椎动物抗金黄色葡萄球菌免疫中的 Spätzle 样作用。
Science. 2014 Oct 31;346(6209):641-646. doi: 10.1126/science.1258705.
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Evolution: the advantage of 'maladaptive' pain plasticity.进化：“适应不良”的疼痛可塑性的优势。
Curr Biol. 2014 May 19;24(10):R384-6. doi: 10.1016/j.cub.2014.04.011.
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Painful and painless channelopathies.痛觉和无痛觉通道病。
Lancet Neurol. 2014 Jun;13(6):587-99. doi: 10.1016/S1474-4422(14)70024-9. Epub 2014 May 6.
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Link between pain and olfaction in an inherited sodium channelopathy.一种遗传性钠通道病中疼痛与嗅觉之间的联系。
Arch Neurol. 2012 Sep;69(9):1119-23. doi: 10.1001/archneurol.2012.21.
6
The Prdm family: expanding roles in stem cells and development.PRDM 家族：在干细胞和发育中发挥更多作用。
Development. 2012 Jul;139(13):2267-82. doi: 10.1242/dev.070110.
7
Attenuation of experimental pain by vibro-tactile stimulation in patients with chronic local or widespread musculoskeletal pain.慢性局部或广泛肌肉骨骼疼痛患者的振动触觉刺激对实验性疼痛的衰减作用。
Eur J Pain. 2011 Sep;15(8):836-42. doi: 10.1016/j.ejpain.2011.01.011. Epub 2011 Feb 19.
8
Nociceptors: the sensors of the pain pathway.伤害感受器：疼痛通路的传感器。
J Clin Invest. 2010 Nov;120(11):3760-72. doi: 10.1172/JCI42843. Epub 2010 Nov 1.
9
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.一种新型的神经生长因子突变阐明了 HSAN5 神经病的分子机制，并扩展了其表型谱。
J Med Genet. 2011 Feb;48(2):131-5. doi: 10.1136/jmg.2010.081455. Epub 2010 Oct 26.
10
Nociceptors--noxious stimulus detectors.伤害感受器——有害刺激探测器。
Neuron. 2007 Aug 2;55(3):353-64. doi: 10.1016/j.neuron.2007.07.016.

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.

DOI:10.1136/jmedgenet-2015-103646
PMID:26975306
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4975812/
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。