Department of Neurology, Military Institute of Medicine, 128 Szaserów Street, 04-141, Warsaw, Poland.
Department of Pain Research and Treatment, Chair of Anesthesiology and Intensive Therapy Jagiellonian University College of Medicine, Krakow, Poland.
BMC Neurol. 2020 May 13;20(1):182. doi: 10.1186/s12883-020-01770-9.
To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time.
Twenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were identified missens mutations in the SCN9A gene (NM_002977.3:c.3892G > T). The onset of the disorder took place in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate with extreme pain, skin flushing and harlequin colour change were observed in all. Attacks of excruciating deep burning pain often appear in the rectal, or jaw areas, but also diffuse in the body. Attacks are triggered by factors such as: defecation, eating, pressure and emotion. Carbamazepine and other antiepileptic drugs were only partly effective in almost all, but the response was incomplete.
Paroxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction. Paroxysmal extreme pain disorder is rare, so far only 500 cases of both women and men have been described in world literature.
描述常染色体显性遗传性阵发性剧痛障碍的临床表型，该疾病在一个波兰家族的 4 名成员中存在 SCN9A 基因 NM_002977.3:c.3892G > T（p.Val1298Phe）突变。收集了一个波兰家族成员的临床检查和详细信息，包括发病年龄、发作特征、发作间期问题、检查结果、尝试的治疗方法以及随时间的演变。
从这个家族中发现了 22 名阵发性剧痛障碍患者。其中 7 人出现阵发性剧痛障碍的临床表现，其中 4 人在 SCN9A 基因（NM_002977.3:c.3892G > T）中发现错义突变。疾病的发作发生在新生儿期或婴儿期，并持续终生。自主症状占主导地位，所有患者均观察到极度疼痛、皮肤潮红和小丑变色。剧烈的深部灼烧样疼痛发作常发生在直肠或颌部，但也会扩散到全身。发作由排便、进食、压力和情绪等因素触发。卡马西平及其他抗癫痫药物对几乎所有患者仅有部分疗效，但反应不完全。
阵发性剧痛障碍是一种遗传性钠离子通道病，伴有疼痛和自主神经系统功能障碍。阵发性剧痛障碍罕见，迄今为止，世界文献中仅描述了 500 例男女患者。
