{"title":"成人脊髓性肌肉萎缩症患者的内分泌表现。","authors":"Matej Rakusa, Blaž Koritnik, Lea Leonardis, Katja Goricar, Tjasa Rudolf, Dejan Firbas, Žiga Snoj, Mojca Jensterle","doi":"10.1002/mus.28275","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction/aims: </strong>Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with SMA. Second, we compared body composition and endocrine profiles between nonambulatory and ambulatory patients and between different types of SMA.</p><p><strong>Methods: </strong>The cross-sectional study included 29 SMA patients (18 [62.1%] males and 11 [37.9%] females) of median age 44 (IQR 30-51.5) years with type 2, 3, or 4. Body composition was measured by bioimpedance. Morning blood samples were drawn for glycated hemoglobin (HbA1c), lipid profile, testosterone, cortisol, and insulin-like growth factor-1 (IGF-1). Blood glucose, insulin, and beta-hydroxybutyrate (BHB) were measured during a 75 g oral glucose tolerance test. The homeostatic model assessment for insulin resistance index was calculated.</p><p><strong>Results: </strong>In total, 75.9% of patients had increased fat mass (FM), with 51.7% having an increase despite normal body mass index. Ambulation was the most important discriminating factor of body composition. 93.1% of patients had metabolic abnormalities, including hyperglycemia, insulin resistance, and dyslipidemia. Increased BHB, a marker of ketosis, was present in more than a third of patients. Functional hypogonadism was present in half of male patients. Testosterone and IGF-1 negatively correlated with FM.</p><p><strong>Discussion: </strong>Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk. Because treatments have modified the course of SMA, it is important to investigate whether these observations translate into clinically relevant outcomes.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1230-1239"},"PeriodicalIF":2.8000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The endocrine manifestations of adults with spinal muscular atrophy.\",\"authors\":\"Matej Rakusa, Blaž Koritnik, Lea Leonardis, Katja Goricar, Tjasa Rudolf, Dejan Firbas, Žiga Snoj, Mojca Jensterle\",\"doi\":\"10.1002/mus.28275\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction/aims: </strong>Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with SMA. Second, we compared body composition and endocrine profiles between nonambulatory and ambulatory patients and between different types of SMA.</p><p><strong>Methods: </strong>The cross-sectional study included 29 SMA patients (18 [62.1%] males and 11 [37.9%] females) of median age 44 (IQR 30-51.5) years with type 2, 3, or 4. Body composition was measured by bioimpedance. Morning blood samples were drawn for glycated hemoglobin (HbA1c), lipid profile, testosterone, cortisol, and insulin-like growth factor-1 (IGF-1). Blood glucose, insulin, and beta-hydroxybutyrate (BHB) were measured during a 75 g oral glucose tolerance test. The homeostatic model assessment for insulin resistance index was calculated.</p><p><strong>Results: </strong>In total, 75.9% of patients had increased fat mass (FM), with 51.7% having an increase despite normal body mass index. Ambulation was the most important discriminating factor of body composition. 93.1% of patients had metabolic abnormalities, including hyperglycemia, insulin resistance, and dyslipidemia. Increased BHB, a marker of ketosis, was present in more than a third of patients. Functional hypogonadism was present in half of male patients. Testosterone and IGF-1 negatively correlated with FM.</p><p><strong>Discussion: </strong>Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk. Because treatments have modified the course of SMA, it is important to investigate whether these observations translate into clinically relevant outcomes.</p>\",\"PeriodicalId\":18968,\"journal\":{\"name\":\"Muscle & Nerve\",\"volume\":\" \",\"pages\":\"1230-1239\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Muscle & Nerve\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mus.28275\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Muscle & Nerve","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mus.28275","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/5 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
引言/目的:脊髓性肌萎缩症(SMA)患者身体成分的变化可导致内分泌异常,但对成人内分泌异常的研究不足。我们的目的是评估一组成人 SMA 患者的内分泌情况。其次,我们比较了非卧床患者和卧床患者以及不同类型 SMA 患者的身体成分和内分泌特征:这项横断面研究包括 29 名 SMA 患者(18 名[62.1%]男性和 11 名[37.9%]女性),中位年龄为 44(IQR 30-51.5)岁,分属 2 型、3 型或 4 型。通过生物阻抗测量身体成分。早晨抽取血样检测糖化血红蛋白(HbA1c)、血脂、睾酮、皮质醇和胰岛素样生长因子-1(IGF-1)。在 75 克口服葡萄糖耐量试验中测量了血糖、胰岛素和 beta-羟丁酸(BHB)。计算了胰岛素抵抗指数的稳态模型评估:共有 75.9% 的患者脂肪量(FM)增加,其中 51.7% 的患者尽管体重指数正常,但脂肪量仍然增加。活动量是身体成分最重要的判别因素。93.1%的患者存在代谢异常,包括高血糖、胰岛素抵抗和血脂异常。超过三分之一的患者存在酮病标志物 BHB 增加。半数男性患者存在功能性性腺功能减退。睾酮和IGF-1与FM呈负相关:讨论:成年 SMA 患者的身体成分异常,代谢紊乱非常普遍,可能会增加心脏代谢风险。由于治疗方法改变了 SMA 的病程,因此研究这些观察结果是否转化为临床相关结果非常重要。
The endocrine manifestations of adults with spinal muscular atrophy.
Introduction/aims: Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with SMA. Second, we compared body composition and endocrine profiles between nonambulatory and ambulatory patients and between different types of SMA.
Methods: The cross-sectional study included 29 SMA patients (18 [62.1%] males and 11 [37.9%] females) of median age 44 (IQR 30-51.5) years with type 2, 3, or 4. Body composition was measured by bioimpedance. Morning blood samples were drawn for glycated hemoglobin (HbA1c), lipid profile, testosterone, cortisol, and insulin-like growth factor-1 (IGF-1). Blood glucose, insulin, and beta-hydroxybutyrate (BHB) were measured during a 75 g oral glucose tolerance test. The homeostatic model assessment for insulin resistance index was calculated.
Results: In total, 75.9% of patients had increased fat mass (FM), with 51.7% having an increase despite normal body mass index. Ambulation was the most important discriminating factor of body composition. 93.1% of patients had metabolic abnormalities, including hyperglycemia, insulin resistance, and dyslipidemia. Increased BHB, a marker of ketosis, was present in more than a third of patients. Functional hypogonadism was present in half of male patients. Testosterone and IGF-1 negatively correlated with FM.
Discussion: Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk. Because treatments have modified the course of SMA, it is important to investigate whether these observations translate into clinically relevant outcomes.
期刊介绍:
Muscle & Nerve is an international and interdisciplinary publication of original contributions, in both health and disease, concerning studies of the muscle, the neuromuscular junction, the peripheral motor, sensory and autonomic neurons, and the central nervous system where the behavior of the peripheral nervous system is clarified. Appearing monthly, Muscle & Nerve publishes clinical studies and clinically relevant research reports in the fields of anatomy, biochemistry, cell biology, electrophysiology and electrodiagnosis, epidemiology, genetics, immunology, pathology, pharmacology, physiology, toxicology, and virology. The Journal welcomes articles and reports on basic clinical electrophysiology and electrodiagnosis. We expedite some papers dealing with timely topics to keep up with the fast-moving pace of science, based on the referees'' recommendation.