Functional capacity evaluation of patients with mucopolysaccharidosis
Functional capacity evaluation of patients with mucopolysaccharidosis
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DOI：
10.3233/prm-2012-0194
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发表时间：
2012-01-01
影响因子：
1.9
通讯作者：
Giugliani, Roberto
中科院分区：
文献类型：
--
作者：
Guarany, Nicole Ruas;Schwartz, Ida Vanessa D.;Giugliani, Roberto
简介：粘多糖沉积症（MPS）是一种罕见的遗传性疾病，由溶酶体酶缺乏引起，影响糖胺聚糖的分解并导致其蓄积，导致多系统临床表现。他们的临床表现导致有限的能力来执行日常生活tasks.Objectives：评估功能的能力和关节活动范围（ROM）的MPS患者，随后在参考中心的溶酶体疾病医院临床波尔图阿莱格雷，Brazils.Methods：这是一个前瞻性的纵向研究，方便的样本。使用儿科残疾评估量表（PEDI）和功能独立性测量（Functional Independence Measure，FMD）评估功能，并使用测角术评估三次（基线、研究入选后6个月和12个月）的ROM。对酶替代疗法（ERT）在两个变量中的作用进行了探索性分析;因此，患者被分为第1组（未接受ERT的患者），第2组（研究入选前后接受ERT治疗的患者）和第3组结果：纳入21例患者：第1组7例（MPS II：3，MPS III-B：2，MPS IV-A：2），第2组6例（MPS I：3; MPS VI：3），第3组8例（MPS I：3，MPS II：4，MPS VI：1）。研究的所有关节活动度均受限，尤其是MPS I、II和VI。功能受损也很常见（PEDI = 5/7例患者; MIF = 9/14例患者），即使在认知功能保留的个体中也是如此。测角术的结果与PEDI领域（自我护理、移动性、社会功能）之间没有相关性。ERT似乎没有显着改变参数analysed.Discussion/conclusion：关节活动性和功能的妥协似乎是常见的MPS I，II，III-B，IV-A，和VI。这一发现符合以下事实：尽管这些类型的MPS是由不同的遗传缺陷引起的，但它们具有相同的代谢途径和生理病理过程，并呈现相似的临床表现。在MPS患者的治疗中，功能的保留是一个越来越大的挑战，应将职业表现的维持定义为所用治疗要达到的目标。为了验证ERT对这些变量的影响，需要进行更大样本量的进一步研究。
Introduction: The mucopolysaccharidoses (MPS) are rare genetic disorders caused by a deficiency in lysosomal enzymes that affect the catabolism of glycosaminoglycans and cause their accumulation, resulting in a multisystemic clinical picture. Their clinical manifestations result in limited ability to perform daily life tasks.Objectives: To evaluate functional capacity and joint range of motion (ROM) in patients with MPS followed at the reference center for lysosomal disorders at Hospital de Clinicas de Porto Alegre, Brazil.Methods: This was a prospective longitudinal study with a convenience sample. The Pediatric Evaluation of Disability Inventory (PEDI) and the Functional Independence Measure (FIM) were used to evaluate functionality and goniometry was used to evaluate ROM at three times (baseline, 6 months, and 12 months after study inclusion). An exploratory analysis was done of the effect of enzyme replacement therapy (ERT) in both variables; thus, patients were divided into Group 1 (patients without ERT), Group 2 (patients on ERT before and after study inclusion), and Group 3 (patients who started ERT after study inclusion).Results: 21 patients were included: 7 in Group 1 (MPS II: 3, MPS III-B: 2, MPS IV-A: 2), 6 in Group 2 (MPS I: 3; MPS VI: 3), and 8 in Group 3 (MPS I: 3, MPS II: 4, MPS VI: 1). A limitation in the mobility of all joints studied was found especially in MPS I, II, and VI. Functionality compromise was also frequent (PEDI = 5/7 patients; MIF = 9/14 patients), even in individuals with preserved cognition. No correlation was found between the findings of goniometry and the PEDI domains (self-care, mobility, social function). ERT did not seem to significantly change the parameters analyzed.Discussion/conclusion: The compromise of joint mobility and functionality seems to be common in MPS I, II, III-B, IV-A, and VI. This finding is in line with the fact that, although these types of MPS are caused by different genetic defects, they share metabolic routes and physiopathogenic processes and present similar clinical manifestations. The preservation of functionality is an increasing challenge in the treatment of MPS patients, and maintenance of occupational performance should be defined as an objective to be reached by therapies used. Further studies with a greater sample size are necessary in order to verify the effect of ERT in these variables.