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首页> 外文期刊>Orphanet journal of rare diseases >Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
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Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

机译：法国医疗系统中亨特综合征患者的诊断，生活质量和治疗：一项回顾性观察研究

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Background Mucopolysaccharidosis II (MPS II) is associated with a broad spectrum of chronic and progressive, life-limiting symptoms. Idursulfase is approved for MPS II enzyme replacement therapy (ERT) in over 50 countries. This retrospective study evaluated the MPS II burden, organization of clinical care, and effects of idursulfase treatment on the disease in France. Methods MPS II patients who had received idursulfase ERT in the French healthcare system were enrolled. In addition to clinician and patient questionnaires, the Clinical Global Impression-Improvement (CGI-I); Patient Global Impression-Improvement (PGI-I); KIDSCREEN-27, and EuroQoL-5D for adult patients scales were used to assess quality of life (QoL) and efficacy. Results Fifty-two patients were enrolled from 5 sites in France. The majority of patients (69.2%) presented a severe MPS II phenotype with progressive neurocognitive impairment. Major impacts on QoL were apparent, with at least 1 member of the family having to reorganize working hours (45.5%) or to stop working (22.7%). KIDSCREEN-27 and EuroQoL-5D scale scores were well below those for referent (control) populations. Most families (70.0%) experienced a diagnostic delay of at least 3 years after the initial observation of symptoms. The MPS II diagnosis was often delivered without adequate sensitivity, psychological support, or comprehensive information about the disease. The study population had received a mean of 3.8?±?1.3 years ERT. Forty-four percent of patients with the attenuated phenotype (without progressive neurocognitive impairment) showed symptom improvement during both the first year (Period 1) and from the end of the first year of treatment to “the present” (Period 2), as measured by CGI-I/PGI-I. 30.3% and 9.1% of severe patients experienced symptom improvement during Periods 1 and 2, respectively, while 63.6% and 51.5% displayed no change. The most common adverse reactions reported were skin rash and other infusion-associated reactions. Conclusions MPS II adversely affects multiple domains of QoL for patients and families, requiring multiple healthcare services and social aid programs. The majority of patients with either phenotype experienced either improvement or stability in their symptoms during the first year of ERT, but this was clearly less so for patients with the severe phenotype after the first year of treatment.
机译：背景粘多糖贮积病II（MPS II）与广泛的慢性和进行性，限制生命的症状有关。异烟酰胺酶已在50多个国家/地区批准用于MPS II酶替代疗法（ERT）。这项回顾性研究评估了MPS II的负担，临床护理的组织以及艾杜硫酶治疗对法国疾病的影响。方法纳入法国医疗系统中接受艾杜硫酶ERT治疗的MPS II患者。除临床医生和患者调查表外，《临床总体印象改善》（CGI-I）;患者整体印象改善（PGI-I）;成人患者的KIDSCREEN-27和EuroQoL-5D量表用于评估生活质量（QoL）和疗效。结果来自法国5个地区的52例患者入选。大多数患者（69.2％）表现出严重的MPS II表型并伴有进行性神经认知障碍。对生活质量的重大影响显而易见，至少有一个家庭成员必须重新安排工作时间（45.5％）或停止工作（22.7％）。 KIDSCREEN-27和EuroQoL-5D量表的得分远低于参考人群（对照组）的得分。最初观察到症状后，大多数家庭（70.0％）经历了至少3年的诊断延迟。 MPS II诊断通常在缺乏足够的敏感性，心理支持或有关疾病的全面信息的情况下进行。研究人群的平均ERT为3.8±1.3年。测量的表型减退（无进行性神经认知功能障碍）的患者中有百分之四十四在治疗的第一年（第一阶段）和第一年末至“目前”（第二阶段）均表现出症状改善由CGI-I / PGI-I。在第1阶段和第2阶段，分别有30.3％和9.1％的重症患者出现症状改善，而63.6％和51.5％的患者则没有变化。报告的最常见不良反应是皮疹和其他与输注相关的反应。结论MPS II对患者和家庭的QoL的多个领域产生不利影响，需要多种医疗服务和社会援助计划。在ERT的第一年中，大多数具有任一表型的患者的症状都得到了改善或稳定，但是对于治疗后第一年中具有严重表型的患者来说，情况显然没有那么好。

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