1 型酪氨酸血症患者的治疗依从性。
Treatment adherence in tyrosinemia type 1 patients.
机构信息
Division of Pediatrics, University Hospital Marqués de Valdecilla, Universidad de Cantabria, and Valdecilla Health Research Institute (IDIVAL), Avda. Valdecilla s/n, 39008, Santander, Spain.
Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Neonatology Service, Department of Pediatrics, University Hospital of Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), MetabERN, A Choupana, s/n, 15706, Santiago de Compostela, A Coruña, Spain.
出版信息
Orphanet J Rare Dis. 2021 Jun 3;16(1):256. doi: 10.1186/s13023-021-01879-1.
BACKGROUND
While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome. Poor treatment adherence is well documented among patients with chronic diseases, but data from HT1 patients are scarce. This study evaluated pharmacological and dietary adherence in HT1 patients both directly, by quantifying blood levels nitisinone (NTBC) levels and metabolic biomarkers of HT1 [tyrosine (Tyr), phenylalanine (Phe), and succinylacetone]; and indirectly, by analyzing NTBC prescriptions from hospital pharmacies and via clinical interviews including the Haynes-Sackett (or self-compliance) test and the adapted Battle test of patient knowledge of the disease.
RESULTS
This observational study analyzed data collected over 4 years from 69 HT1 patients (7 adults and 62 children; age range, 7 months-35 years) who were treated with NTBC and a low-Tyr, low-Phe diet. Adherence to both pharmacological and, in particular, dietary treatment was poor. Annual data showed that NTBC levels were lower than recommended in more than one third of patients, and that initial Tyr levels were high (> 400 µM) in 54.2-64.4% of patients and exceeded 750 µM in 25.8% of them. Remarkably, annual normalization of NTBC levels was observed in 29.4-57.9% of patients for whom serial NTBC determinations were performed. Poor adherence to dietary treatment was more refractory to positive reinforcement: 36.2% of patients in the group who underwent multiple analyses per year maintained high Tyr levels during the entire study period, and, when considering each of the years individually this percentage ranged from 75 to 100% of them. Indirect methods revealed percentages of non-adherent patients of 7.3 and 15.9% (adapted Battle and Haynes tests, respectively).
CONCLUSIONS
Despite initially poor adherence to pharmacological and especially dietary treatment among HT1 patients, positive reinforcement at medical consultations resulted in a marked improvement in NTBC levels, indicating the importance of systematic positive reinforcement at medical visits.
背景
尽管治疗进展显著改善了 1 型遗传性酪氨酸血症（HT1）患者的预后，但坚持饮食和药物治疗对于获得最佳临床结果至关重要。慢性病患者的治疗依从性差已有充分记录，但 HT1 患者的数据却很少。本研究通过定量测定 nitisinone（NTBC）水平和 HT1 的代谢生物标志物[酪氨酸（Tyr）、苯丙氨酸（Phe）和琥珀酰丙酮]，直接评估 HT1 患者的药物和饮食依从性；并通过分析医院药房的 NTBC 处方以及通过包括 Haynes-Sackett（或自我依从性）测试和改编的疾病知识患者测试在内的临床访谈，间接评估 NTBC 处方。
结果
这项观察性研究分析了 4 年来从 69 名接受 NTBC 和低 Tyr、低 Phe 饮食治疗的 HT1 患者（7 名成人和 62 名儿童；年龄范围 7 个月至 35 岁）收集的数据。药物治疗和饮食治疗的依从性都很差。年度数据显示，超过三分之一的患者 NTBC 水平低于推荐水平，54.2%-64.4%的患者初始 Tyr 水平较高（>400μM），其中 25.8%的患者超过 750μM。值得注意的是，对于进行了多次 NTBC 检测的患者，有 29.4%-57.9%的患者每年的 NTBC 水平都能正常化。饮食治疗的依从性更难通过积极强化来改善：在每年进行多次分析的患者中，36.2%的患者在整个研究期间保持高 Tyr 水平，并且，当单独考虑每年的情况时，他们中有 75%至 100%的患者如此。间接方法显示，不依从的患者比例分别为 7.3%和 15.9%（改编后的 Battle 和 Haynes 测试）。
结论
尽管 HT1 患者最初在药物和特别是饮食治疗方面依从性较差，但在医疗咨询时进行积极强化治疗导致 NTBC 水平显著改善，这表明在医疗就诊时系统地进行积极强化治疗非常重要。
Zotero 插件