da Rocha Siqueira Thabata Caroline, de Souza Carolina Fischinger Moura, Lompa Paulo, Picarelli Mercedes, Scheibel Ilóite, Bender Fernanda, Guidobono Régis, Burin Maira Graeff, Giugliani Roberto
Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil.
Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
JIMD Rep. 2016;26:99-102. doi: 10.1007/8904_2015_484. Epub 2015 Aug 28.
The mucopolysaccharidoses (MPS) are a group of 11 inborn errors of metabolism (IEM) which are part of the lysosomal storage diseases (LSDs). The MPS are multisystemic conditions that affect the entire body, with variations in the clinical presentation, having specific treatments available depending on the type of MPS. Nearly all MPS disorders compromise the osteoarticular system in different ways, and virtually all patients have abnormal urinary excretion of glycosaminoglycans (GAGs). MPS are rare diseases that are underdiagnosed due to health-care professionals' lack of awareness, to poor access to screening and diagnostic methods, and to their extensive clinical heterogeneity. Attenuated forms may occur, which can make diagnosis of MPS even more difficult.
This study was conducted prospectively from March 2012 to January 2014 and included 55 patients at rheumatology and/or orthopedic services in Porto Alegre, Brazil. The screened patients presented with articular manifestations with no defined etiology. These patients were screened by quantitative and qualitative assessment of urinary GAGs.
Among the 55 cases investigated, one 15-year-old patient exhibited increased urinary GAG excretion; this patient was subsequently diagnosed with an attenuated form of MPS II, which was previously undetected.
Although the proportion of patients with MPS identified in the study sample was small (1/55), this study shows that these diseases are underdiagnosed and that systematic screening can help identify patients who may benefit from specific treatments already available for several MPS types.
黏多糖贮积症（MPS）是一组11种先天性代谢缺陷病（IEM），属于溶酶体贮积病（LSD）。MPS是影响全身的多系统疾病，临床表现存在差异，根据MPS的类型有特定的治疗方法。几乎所有MPS疾病都会以不同方式损害骨关节炎系统，实际上所有患者的尿糖胺聚糖（GAG）排泄均异常。MPS是罕见病，由于医护人员缺乏认识、筛查和诊断方法获取困难以及其广泛的临床异质性，导致诊断不足。可能会出现症状较轻的形式，这会使MPS的诊断更加困难。
本研究于2012年3月至2014年1月进行前瞻性研究，纳入了巴西阿雷格里港风湿病和/或骨科服务的55名患者。接受筛查的患者表现出无明确病因的关节表现。这些患者通过对尿GAG进行定量和定性评估进行筛查。
在调查的55例病例中，一名15岁患者尿GAG排泄增加；该患者随后被诊断为症状较轻的II型MPS，此前未被发现。
尽管在研究样本中确诊的MPS患者比例较小（1/55），但本研究表明这些疾病诊断不足，系统筛查有助于识别可能从几种MPS类型已有的特定治疗中获益的患者。
