Guarany Nicole Ruas, Schwartz Ida Vanessa D, Guarany Fábio Coelho, Giugliani Roberto
Post Graduation Program in Child and Adolescent Health, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194.
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.
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 Clínicas de Porto Alegre, Brazil.
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).
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.
黏多糖贮积症（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代谢并导致其蓄积，从而产生多系统临床表现。其临床表现导致患者进行日常生活任务的能力受限。
评估在巴西阿雷格里港临床医院溶酶体疾病参考中心接受治疗的MPS患者的功能能力和关节活动范围（ROM）。
这是一项采用便利抽样的前瞻性纵向研究。使用儿童残疾评估量表（PEDI）和功能独立性测量量表（FIM）评估功能，并在研究纳入后的三个时间点（基线、6个月和12个月）使用测角法评估ROM。对酶替代疗法（ERT）在这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（在研究纳入前后接受ERT的患者）和第3组（在研究纳入后开始接受ERT的患者）。
共纳入21例患者：第1组7例（MPS II：3例，MPS III - B：2例，MPS IV - A：2例），第2组6例（MPS I：3例；MPS VI：3例），第3组8例（MPS I：3例，MPS II：4例，MPS VI：1例）。发现所有研究关节的活动度均受限，尤其是在MPS I、II和VI型中。功能受损也很常见（PEDI = 5/7例患者；MIF = 9/14例患者），即使是认知功能正常的个体。测角法结果与PEDI各领域（自我护理、活动能力、社会功能）之间未发现相关性。ERT似乎并未显著改变所分析的参数。
讨论/结论：关节活动度和功能受损在MPS I、II、III - B、IV - A和VI型中似乎很常见。这一发现与以下事实相符，即尽管这些类型的MPS由不同的基因缺陷引起，但它们共享代谢途径和病理生理过程，并呈现相似的临床表现。在MPS患者的治疗中，维持功能是一个日益严峻的挑战，应将维持职业表现定义为所用治疗方法要达到的目标。需要进行更大样本量的进一步研究，以验证ERT在这些变量中的作用。
