Bone Health in Pediatric Charcot-Marie-Tooth (CMT) Patients: The Baseline Experience in a Multidisciplinary Neuromuscular Program at a Pediatric Tertiary Care Center

IF 1.7 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Martha L. Finch MD (Primary Author) , Jennifer L. Miller MD (Contributing Author) , Meghan C. Kostyk APRN-NP, MSN, CPNP, CCD (Contributing Author) , Vamshi Rao MD (Contributing Author)
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引用次数: 0

Abstract

Purpose/Aims

Adults with CMT have increased fracture risk, but data in children is lacking. We examine current bone health data in CMT at Lurie Children's Hospital (LCH) to inform clinical care, optimize bone health, and improve long- term morbidity and fracture risk.

Rationale/Background

Poor pediatric bone health increases lifelong risk of osteoporosis, with associated morbidity and mortality. CMT, the most common chronic peripheral neuropathy in childhood, is genetically and clinically heterogeneous, with milder, demyelinating (CMT-D), and more severe, axonal (CMT-A) subtypes.

Presentation includes distal leg weakness or deformity, mobility or balance issues, and muscle cramping. There are no disease-modifying therapies in children; early recognition, symptomatic care, and rehabilitation are critical.

Brief Description of the Undertaking/Best Practice

Retrospective chart review of 38 patients (pts) with CMT seen at LCH from 2012-22 revealed 21 pts (age 7-24 years(y)) who had Dual-energy X-ray Absorptiometry (DXA). Lumbar (LS) and total body less head (TBLH) bone mineral density (BMD, g/cm2) were measured (GE/Lunar iDXA). DXA Z-scores, ambulatory status, scoliosis, fracture, vitamin D supplementation, and 25OH vitamin D (25OHD) levels were assessed.

Outcomes achieved/documented

Seventeen pts had CMT-D; 4 had CMT-A. 18 pts were weight bearing (WB). The 2 non-WB (NWB), and 1 WB with assistance pts all had CMT-A. 3 pts had scoliosis (1 was NWB; 2 had CMT-D). 2 pts had a history of 1 fracture (not vertebral). 16 took supplemental vitamin D; 13 had 25OHD results, 1 was < 20 ng/ml. Pts were 5- 17y at initial DXA and had 1-7 DXA's completed. At initial DXA, 3 had low BMD (TBLH) (9, 12, 15y). One NWB pt later developed low LS BMD, and another with initial normal BMD had low BMD at 9y (NWB). Three pts with low BMD had CMT-A. Patients with fracture and low 25OHD had normal BMD, and 1 pt with scoliosis had low BMD.

Conclusions

Patients with CMT-A had a more severe phenotype and associated bone health measures in this cohort (3 NWB, and 3 with low BMD). Guidelines for pediatric CMT recommend improving muscle strength to slow progression of weakness, without specific bone health recommendations. Given the peripheral nature of CMT, DXA of lateral distal femur or distal 1/3 radius, or peripheral quantitative computed tomography (pQCT) may more accurately characterize bone health status. This study was limited by small sample size and 17/38 pts did not have DXA data. The LCH Neuromuscular program (neurologists, dietitians, physical and occupational therapists, and bone health specialists), seeks to monitor pts with CMT longitudinally, assessing 25OHD, calcium status, and BMD serially, to optimize bone health and prevent fractures and long-term morbidity.

儿童腓骨肌萎缩症(CMT)患者的骨骼健康:儿科三级保健中心多学科神经肌肉项目的基线经验
成人CMT患者骨折风险增加,但缺乏儿童相关数据。我们检查了Lurie儿童医院(LCH) CMT目前的骨骼健康数据,以告知临床护理,优化骨骼健康,并改善长期发病率和骨折风险。理由/背景:儿童骨骼健康状况不佳会增加骨质疏松症的终生风险,并伴有相关的发病率和死亡率。CMT是儿童最常见的慢性周围神经病变,具有遗传和临床异质性,有较轻的脱髓鞘(CMT- d)亚型和较严重的轴突(CMT- a)亚型。表现为下肢远端无力或畸形,活动能力或平衡问题,肌肉痉挛。在儿童中没有改善疾病的疗法;早期识别、对症治疗和康复至关重要。回顾2012-22年在LCH看到的38例CMT患者的回顾性图表,其中21例(7-24岁)接受了双能x线吸收仪(DXA)检查。测定腰椎(LS)和全身减头(TBLH)骨密度(BMD, g/cm2) (GE/Lunar iDXA)。评估DXA z评分、运动状态、脊柱侧凸、骨折、维生素D补充和25OH维生素D (25OHD)水平。17例患者有CMT-D;4例有CMT-A。18例为负重(WB)。2例非WB (NWB)和1例辅助WB患者均有CMT-A。脊柱侧凸3例(NWB 1例;2例有CMT-D)。2例PTS有1例骨折史(非椎体)。16例服用补充维生素D;25OHD结果13例,1例;20 ng / ml。患者初始DXA为5- 17y,完成了1-7次DXA。初始DXA时,3例BMD (TBLH)较低(9,12,15 y)。一名NWB患者后来发展为低LS骨密度,另一名初始骨密度正常的患者在9岁时骨密度低(NWB)。3例低骨密度患者有CMT-A。骨折和低25OHD患者骨密度正常,1例脊柱侧凸患者骨密度低。结论:在该队列中,CMT-A患者具有更严重的表型和相关的骨健康指标(3例骨质疏松,3例骨密度低)。儿科CMT指南建议改善肌肉力量,以减缓虚弱的进展,没有具体的骨骼健康建议。考虑到CMT的外周性,股骨远端外侧或桡骨远端1/3处的DXA或外周定量计算机断层扫描(pQCT)可能更准确地表征骨骼健康状况。该研究受样本量小的限制,17/38的患者没有DXA数据。LCH神经肌肉项目(神经科医生、营养师、物理和职业治疗师以及骨骼健康专家),寻求对CMT患者进行纵向监测,连续评估25OHD、钙状态和骨密度,以优化骨骼健康,预防骨折和长期发病率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Clinical Densitometry
Journal of Clinical Densitometry 医学-内分泌学与代谢
CiteScore
4.90
自引率
8.00%
发文量
92
审稿时长
90 days
期刊介绍: The Journal is committed to serving ISCD''s mission - the education of heterogenous physician specialties and technologists who are involved in the clinical assessment of skeletal health. The focus of JCD is bone mass measurement, including epidemiology of bone mass, how drugs and diseases alter bone mass, new techniques and quality assurance in bone mass imaging technologies, and bone mass health/economics. Combining high quality research and review articles with sound, practice-oriented advice, JCD meets the diverse diagnostic and management needs of radiologists, endocrinologists, nephrologists, rheumatologists, gynecologists, family physicians, internists, and technologists whose patients require diagnostic clinical densitometry for therapeutic management.
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