{"title":"Congenital insensitivity to pain with anhidrosis (CIPA): sebuah artikel dan manajemen anestesi","authors":"Ina Karina Putri G. Sugihen","doi":"10.52364/sehati.v2i1.14","DOIUrl":null,"url":null,"abstract":"Congenital insensitivity to pain with anhidrosis (CIPA) is hereditary sensory and autonomic neuropathies (HSAN) type IV caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence from few reported cases, it is important to know its sign and symptomp to be considered in the differential diagnosis. Therapy for CIPA remains unclear. Complication prevention is the only possible treatment of CIPA. In anesthetic management during surgery, those patients should still administred by analgesics for sedation and anxiolytic effects.","PeriodicalId":240301,"journal":{"name":"SEHATI: Jurnal Kesehatan","volume":"24 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"SEHATI: Jurnal Kesehatan","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52364/sehati.v2i1.14","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is hereditary sensory and autonomic neuropathies (HSAN) type IV caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence from few reported cases, it is important to know its sign and symptomp to be considered in the differential diagnosis. Therapy for CIPA remains unclear. Complication prevention is the only possible treatment of CIPA. In anesthetic management during surgery, those patients should still administred by analgesics for sedation and anxiolytic effects.
先天性无汗性疼痛不敏感症(Congenital insensitivity to pain with anhidrosis, CIPA)是由位于染色体1q21-22上编码酪氨酸酶结构域受体高亲和神经生长因子的NTRK1基因(神经营养性酪氨酸激酶受体1)突变引起的遗传性感觉和自主神经病变(HSAN) IV型。它的特点是无汗,对疼痛刺激不敏感和智力迟钝。鉴于其低患病率从少数报告病例,重要的是要知道其体征和症状,以考虑在鉴别诊断。CIPA的治疗方法尚不清楚。预防并发症是CIPA唯一可能的治疗方法。在手术麻醉管理中,这些患者仍应给予镇痛药镇静和抗焦虑作用。