Fernandes Samuela A, Khan Aleena A, Boggs Tracy, Bowling Michael, Austin Stephanie, Stefanescu Mihaela, Case Laura, Kishnani Priya S
Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA.
Division of Physical Therapy, Department of Community and Family Medicine Duke University School of Medicine Durham North Carolina USA.
JIMD Rep. 2020 Oct 14;57(1):94-101. doi: 10.1002/jmd2.12174. eCollection 2021 Jan.
Since the introduction of enzyme replacement therapy (ERT) with alglucosidase alfa, there has been increased survival in patients with Pompe disease. It is essential to characterize and quantify the burden of disease in these patients. Here, we report a measure of muscle fat infiltration in children with infantile and pediatric late-onset Pompe disease (IPD and LOPD, respectively) to better understand the extent of muscle involvement.
Eleven pediatric patients with Pompe disease (five IPD, six LOPD), ages 7-17 years, received whole-body magnetic resonance imaging (WBMRI), muscle strength testing using the modified Medical Research Council (mMRC) scale, functional assessment using gait, stairs, gowers, chair (GSGC), and urine glucose tetrasaccharide (Glc) testing. The intramuscular fat seen on WBMRI was quantified using proton density fat fraction (PDFF) and correlated to appropriate muscle strength and functional tests, and urine Glc.
Patients with IPD, although younger, had higher mean PDFF values than LOPD patients (11.61% vs 8.52%). Significant correlation existed between PDFF and the GSGC assessment ( = .9273, = .0003). Moderate correlation existed between PDFF and mMRC ( = -.667, = .0831), and PDFF and urine Glc ( = .6121, = .0667). Anterior tibialis was in the top quartile of muscle involvement for patients with LOPD.
In the past, physical therapy assessments alone have been used to track disease progression. Here, we show the clinical utility of WBMRI in quantifying muscle involvement in children with Pompe disease, especially regarding the novel involvement of anterior tibialis in children with LOPD, to better assess baseline muscle burden and mapping disease progression in children treated with ERT.
自引入阿糖苷酶α进行酶替代疗法（ERT）以来，庞贝病患者的生存率有所提高。明确并量化这些患者的疾病负担至关重要。在此，我们报告了一项针对婴儿型和儿童晚发型庞贝病（分别为IPD和LOPD）患儿肌肉脂肪浸润的测量方法，以更好地了解肌肉受累程度。
11例年龄在7至17岁的庞贝病儿科患者（5例IPD，6例LOPD）接受了全身磁共振成像（WBMRI）、使用改良医学研究委员会（mMRC）量表进行肌肉力量测试、使用步态、楼梯、从仰卧位起身、椅子（GSGC）进行功能评估以及尿葡萄糖四糖（Glc）检测。利用质子密度脂肪分数（PDFF）对WBMRI上所见的肌肉内脂肪进行量化，并将其与适当的肌肉力量和功能测试以及尿Glc进行关联。
IPD患者尽管年龄较小，但平均PDFF值高于LOPD患者（11.61%对8.52%）。PDFF与GSGC评估之间存在显著相关性（r = 0.9273，P = 0.0003）。PDFF与mMRC之间存在中度相关性（r = -0.667，P = 0.0831），且PDFF与尿Glc之间也存在中度相关性（r = 0.6121，P = 0.0667）。胫前肌在LOPD患者的肌肉受累程度中处于前四分位数。
过去，仅通过物理治疗评估来跟踪疾病进展。在此，我们展示了WBMRI在量化庞贝病患儿肌肉受累情况方面的临床实用性，特别是关于LOPD患儿胫前肌的新受累情况，以便更好地评估接受ERT治疗患儿的基线肌肉负担并描绘疾病进展。
