Bat El Bar-Aluma, Ronit Porges, Liana Tripto-Shkolnik, Shlomit Keler, Noah Gruber, Adi Dagan, Dalit Modan-Moses, Yael Levy-Shraga
{"title":"患有家族性自主神经障碍的儿童、青少年和年轻人的骨密度和骨小梁评分。","authors":"Bat El Bar-Aluma, Ronit Porges, Liana Tripto-Shkolnik, Shlomit Keler, Noah Gruber, Adi Dagan, Dalit Modan-Moses, Yael Levy-Shraga","doi":"10.1007/s00223-025-01400-x","DOIUrl":null,"url":null,"abstract":"<p><p>Familial dysautonomia (FD) is characterized by skeletal morbidity, including osteoporosis and increased fracture risk. We aimed to assess bone mineral density (BMD) and trabecular bone score (TBS) in individuals with FD, and to explore correlations with disease severity. This retrospective study included all the patients with FD who performed at least one dual-energy X-ray absorptiometry (DXA) scan at our institution during 2015-2023. Demographic and clinical data obtained from medical records included: medical treatment, anthropometric measurements, Functional Severity Scale (FuSS) score, balance assessment, the Brief Ataxia Rating Scale score, ambulation ability, blood test results and fracture history. Forty-one patients (21 males) had at least one DXA scan. The median age at the first scan was 25 years (range 7-47). The mean BMD Z-score was - 1.2 ± 1.5 at the lumbar spine and - 1.3 ± 1.1 at the bilateral proximal femur. The mean TBS Z-score was - 1.8 ± 1.6. The bilateral proximal femur BMD Z-score correlated with better scores of balance (r = 0.612, p = 0.001), ambulation (r = 0.627, p = 0.001) and ataxia (r = - 0.470, p = 0.015). For 67% of the patients, C-terminal telopeptides of type I collagen (CTX) was above the normal range for age. Both CTX and procollagen type I N-terminal propeptide (P1NP) correlated negatively with FuSS (r = - 0.515, p = 0.10 and r = - 0.619, p = 0.042, respectively) and with L<sub>1-4</sub> Z-scores (r = - 0.681, p = 0.03 and r = - 0.700, p = 0.02, respectively). Individuals with FD had low BMD and TBS Z-scores. These parameters were correlated to disease severity, specifically to balance and ambulation. The bone resorption marker was high and negatively correlated with disease severity.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"88"},"PeriodicalIF":3.3000,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187790/pdf/","citationCount":"0","resultStr":"{\"title\":\"Bone Mineral Density and Trabecular Bone Score in Children, Adolescents and Young Adults with Familial Dysautonomia.\",\"authors\":\"Bat El Bar-Aluma, Ronit Porges, Liana Tripto-Shkolnik, Shlomit Keler, Noah Gruber, Adi Dagan, Dalit Modan-Moses, Yael Levy-Shraga\",\"doi\":\"10.1007/s00223-025-01400-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Familial dysautonomia (FD) is characterized by skeletal morbidity, including osteoporosis and increased fracture risk. We aimed to assess bone mineral density (BMD) and trabecular bone score (TBS) in individuals with FD, and to explore correlations with disease severity. This retrospective study included all the patients with FD who performed at least one dual-energy X-ray absorptiometry (DXA) scan at our institution during 2015-2023. Demographic and clinical data obtained from medical records included: medical treatment, anthropometric measurements, Functional Severity Scale (FuSS) score, balance assessment, the Brief Ataxia Rating Scale score, ambulation ability, blood test results and fracture history. Forty-one patients (21 males) had at least one DXA scan. The median age at the first scan was 25 years (range 7-47). The mean BMD Z-score was - 1.2 ± 1.5 at the lumbar spine and - 1.3 ± 1.1 at the bilateral proximal femur. The mean TBS Z-score was - 1.8 ± 1.6. The bilateral proximal femur BMD Z-score correlated with better scores of balance (r = 0.612, p = 0.001), ambulation (r = 0.627, p = 0.001) and ataxia (r = - 0.470, p = 0.015). For 67% of the patients, C-terminal telopeptides of type I collagen (CTX) was above the normal range for age. Both CTX and procollagen type I N-terminal propeptide (P1NP) correlated negatively with FuSS (r = - 0.515, p = 0.10 and r = - 0.619, p = 0.042, respectively) and with L<sub>1-4</sub> Z-scores (r = - 0.681, p = 0.03 and r = - 0.700, p = 0.02, respectively). Individuals with FD had low BMD and TBS Z-scores. These parameters were correlated to disease severity, specifically to balance and ambulation. The bone resorption marker was high and negatively correlated with disease severity.</p>\",\"PeriodicalId\":9601,\"journal\":{\"name\":\"Calcified Tissue International\",\"volume\":\"116 1\",\"pages\":\"88\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2025-06-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187790/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Calcified Tissue International\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00223-025-01400-x\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Calcified Tissue International","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00223-025-01400-x","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
摘要
家族性自主神经异常(FD)以骨骼疾病为特征,包括骨质疏松症和骨折风险增加。我们旨在评估FD患者的骨密度(BMD)和骨小梁评分(TBS),并探讨其与疾病严重程度的相关性。本回顾性研究纳入了2015-2023年期间在我院至少进行过一次双能x线吸收仪(DXA)扫描的所有FD患者。从医疗记录中获得的人口学和临床数据包括:医疗情况、人体测量、功能严重程度量表(FuSS)评分、平衡评估、简短共济失调评定量表评分、行走能力、血液检查结果和骨折史。41例患者(21例男性)至少有一次DXA扫描。首次扫描时的中位年龄为25岁(范围7-47岁)。腰椎BMD Z-score平均值为- 1.2±1.5,双侧股骨近端BMD Z-score平均值为- 1.3±1.1。TBS Z-score平均值为- 1.8±1.6。双侧股骨近端BMD z评分与较好的平衡(r = 0.612, p = 0.001)、行走(r = 0.627, p = 0.001)和共济失调(r = - 0.470, p = 0.015)评分相关。67%的患者I型胶原c端末端肽(CTX)高于正常年龄范围。CTX和I型前胶原n端前肽(P1NP)与FuSS呈负相关(r = - 0.515, p = 0.10和- 0.619,p = 0.042),与L1-4 z评分呈负相关(r = - 0.681, p = 0.03和r = - 0.700, p = 0.02)。FD患者的骨密度和TBS z -评分较低。这些参数与疾病严重程度相关,特别是与平衡和行走有关。骨吸收指标高,且与疾病严重程度呈负相关。
Bone Mineral Density and Trabecular Bone Score in Children, Adolescents and Young Adults with Familial Dysautonomia.
Familial dysautonomia (FD) is characterized by skeletal morbidity, including osteoporosis and increased fracture risk. We aimed to assess bone mineral density (BMD) and trabecular bone score (TBS) in individuals with FD, and to explore correlations with disease severity. This retrospective study included all the patients with FD who performed at least one dual-energy X-ray absorptiometry (DXA) scan at our institution during 2015-2023. Demographic and clinical data obtained from medical records included: medical treatment, anthropometric measurements, Functional Severity Scale (FuSS) score, balance assessment, the Brief Ataxia Rating Scale score, ambulation ability, blood test results and fracture history. Forty-one patients (21 males) had at least one DXA scan. The median age at the first scan was 25 years (range 7-47). The mean BMD Z-score was - 1.2 ± 1.5 at the lumbar spine and - 1.3 ± 1.1 at the bilateral proximal femur. The mean TBS Z-score was - 1.8 ± 1.6. The bilateral proximal femur BMD Z-score correlated with better scores of balance (r = 0.612, p = 0.001), ambulation (r = 0.627, p = 0.001) and ataxia (r = - 0.470, p = 0.015). For 67% of the patients, C-terminal telopeptides of type I collagen (CTX) was above the normal range for age. Both CTX and procollagen type I N-terminal propeptide (P1NP) correlated negatively with FuSS (r = - 0.515, p = 0.10 and r = - 0.619, p = 0.042, respectively) and with L1-4 Z-scores (r = - 0.681, p = 0.03 and r = - 0.700, p = 0.02, respectively). Individuals with FD had low BMD and TBS Z-scores. These parameters were correlated to disease severity, specifically to balance and ambulation. The bone resorption marker was high and negatively correlated with disease severity.
期刊介绍:
Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.