{"title":"努西那生治疗后 1 型脊髓性肌萎缩症(SMA)的常见并发症。","authors":"Yiğithan Güzin, Osman Büyükşen, Pınar Gençpınar, Nihal Olgaç Dündar, Figen Baydan","doi":"10.24953/turkjpediatr.2024.4527","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is an inherited disease with progressive muscle weakness and atrophy. Despite the new treatments developed recently, primary and secondary effects of muscle weakness in patients with SMA cause mortality and morbidity. The aim of this study is to identify common problems in the follow-up of patients after new treatment modalities and to examine the difficulties in management of these problems.</p><p><strong>Methods: </strong>The study included 16 patients diagnosed with SMA type 1 according to clinical findings and genetic results between 2017 and 2022. The patients were divided into two groups as living and deceased, and complications were examined and compared between the groups.</p><p><strong>Results: </strong>The patients comprised 8 (50%) females and 8 (50%) males with a median age at diagnosis of 3 months. The patients had a history of gastrointestinal problems, orthopedic problems, infection and sepsis, and especially respiratory distress. Death occurred in 8 (50%) patients during follow-up (median age 38 months). Mortality was higher in patients who needed tracheostomy and had gastroesophageal reflux. The survival rate was better in patients who received more nusinersen treatment and had a higher CHOP-INTEND score.</p><p><strong>Conclusions: </strong>Despite new-generation treatments for SMA type 1, morbidity and mortality rates remain very high. As the survival rate in SMA type 1 increases, the incidence of complications similar to those frequently seen in SMA type 2 and type 3 patients also increases. The follow-up and treatment of patients with SMA should be undertaken by a multidisciplinary team.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 5","pages":"567-577"},"PeriodicalIF":0.0000,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Common complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment.\",\"authors\":\"Yiğithan Güzin, Osman Büyükşen, Pınar Gençpınar, Nihal Olgaç Dündar, Figen Baydan\",\"doi\":\"10.24953/turkjpediatr.2024.4527\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is an inherited disease with progressive muscle weakness and atrophy. Despite the new treatments developed recently, primary and secondary effects of muscle weakness in patients with SMA cause mortality and morbidity. The aim of this study is to identify common problems in the follow-up of patients after new treatment modalities and to examine the difficulties in management of these problems.</p><p><strong>Methods: </strong>The study included 16 patients diagnosed with SMA type 1 according to clinical findings and genetic results between 2017 and 2022. The patients were divided into two groups as living and deceased, and complications were examined and compared between the groups.</p><p><strong>Results: </strong>The patients comprised 8 (50%) females and 8 (50%) males with a median age at diagnosis of 3 months. The patients had a history of gastrointestinal problems, orthopedic problems, infection and sepsis, and especially respiratory distress. Death occurred in 8 (50%) patients during follow-up (median age 38 months). Mortality was higher in patients who needed tracheostomy and had gastroesophageal reflux. The survival rate was better in patients who received more nusinersen treatment and had a higher CHOP-INTEND score.</p><p><strong>Conclusions: </strong>Despite new-generation treatments for SMA type 1, morbidity and mortality rates remain very high. As the survival rate in SMA type 1 increases, the incidence of complications similar to those frequently seen in SMA type 2 and type 3 patients also increases. The follow-up and treatment of patients with SMA should be undertaken by a multidisciplinary team.</p>\",\"PeriodicalId\":101314,\"journal\":{\"name\":\"The Turkish journal of pediatrics\",\"volume\":\"66 5\",\"pages\":\"567-577\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-11-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Turkish journal of pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24953/turkjpediatr.2024.4527\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Turkish journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24953/turkjpediatr.2024.4527","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
背景:脊髓性肌萎缩症(SMA脊髓性肌萎缩症(SMA)是一种遗传性疾病,患者会逐渐出现肌肉无力和萎缩。尽管最近开发出了新的治疗方法,但 SMA 患者肌无力的原发性和继发性影响仍会导致死亡和发病。本研究旨在找出新治疗方法后患者随访过程中的常见问题,并探讨处理这些问题的困难:研究纳入了2017年至2022年间根据临床结果和基因结果确诊为SMA 1型的16名患者。将患者分为存活和死亡两组,并对两组患者的并发症进行研究和比较:患者中有8名女性(50%)和8名男性(50%),确诊时的中位年龄为3个月。患者有胃肠道疾病、骨科疾病、感染和败血症病史,尤其是呼吸困难。随访期间,有 8 名患者(50%)死亡(中位年龄为 38 个月)。需要气管造口术和胃食管反流的患者死亡率较高。接受更多的奴西奈森治疗和CHOP-INTEND评分较高的患者存活率更高:结论:尽管对 SMA 1 型采用了新一代治疗方法,但发病率和死亡率仍然很高。结论:尽管对 SMA 1 型采用了新一代治疗方法,但发病率和死亡率仍然很高。随着 SMA 1 型存活率的提高,类似于 SMA 2 型和 3 型患者常见并发症的发生率也在增加。对 SMA 患者的随访和治疗应由多学科团队负责。
Common complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment.
Background: Spinal muscular atrophy (SMA) is an inherited disease with progressive muscle weakness and atrophy. Despite the new treatments developed recently, primary and secondary effects of muscle weakness in patients with SMA cause mortality and morbidity. The aim of this study is to identify common problems in the follow-up of patients after new treatment modalities and to examine the difficulties in management of these problems.
Methods: The study included 16 patients diagnosed with SMA type 1 according to clinical findings and genetic results between 2017 and 2022. The patients were divided into two groups as living and deceased, and complications were examined and compared between the groups.
Results: The patients comprised 8 (50%) females and 8 (50%) males with a median age at diagnosis of 3 months. The patients had a history of gastrointestinal problems, orthopedic problems, infection and sepsis, and especially respiratory distress. Death occurred in 8 (50%) patients during follow-up (median age 38 months). Mortality was higher in patients who needed tracheostomy and had gastroesophageal reflux. The survival rate was better in patients who received more nusinersen treatment and had a higher CHOP-INTEND score.
Conclusions: Despite new-generation treatments for SMA type 1, morbidity and mortality rates remain very high. As the survival rate in SMA type 1 increases, the incidence of complications similar to those frequently seen in SMA type 2 and type 3 patients also increases. The follow-up and treatment of patients with SMA should be undertaken by a multidisciplinary team.