Wang Lin, Zou Hui, Ye Fang, Wang Kundi, Li Xiaowen, Chen Zhihua, Chen Jie, Han Bingjuan, Yu Weimin, He Chun, Shen Ming
Department of Preventive Health Care, China-Japan Friendship Hospital, Beijing, China.
Newborn Screening Center, Jinan Maternity and Child Care Hospital, Jinan, Shandong Province, China.
J Inherit Metab Dis. 2017 May;40(3):369-376. doi: 10.1007/s10545-016-9995-0. Epub 2016 Nov 10.
Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.
A non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.
The total OOPCs were USD$3766.1 (0y), USD$3795.2 (1-2 ys), USD$4657.7 (3-4 ys), USD$5979.9 (5-8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0-779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120-250 μmol/L) in 0-4-ys group (r = -0.474, p = 0.026).
The management of PKU is associated with a severe financial burden on patients' families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.
苯丙酮尿症（PKU）是一种罕见的先天性疾病，若不治疗，会导致严重的神经行为功能障碍。鉴于其复杂性，PKU的管理可能给家长和照护者带来巨大的经济负担。中国PKU患者的自付费用情况仍不明确。本文首次以定量方式探讨经典型PKU的家庭经济负担及其对中国家庭的影响。
在中国遗传性代谢疾病国家中心之一的中日友好医院开展了一项非干预性观察性研究。将医疗和非医疗家庭经济负担整合到一份问卷中，以评估PKU治疗及随访的自付费用（OOPC）。
不同年龄组的PKU患者总OOPC分别为：0岁时3766.1美元，1 - 2岁时3795.2美元，3 - 4岁时4657.7美元，5 - 8岁时5979.9美元，9岁及以上时5588.7美元。经典型PKU的经济负担中位数占家庭年总收入的75.0%（范围为1.0 - 779.1%），94.4%的家庭超过了被视为灾难性支出的阈值。在0 - 4岁组中，经济负担与苯丙氨酸（Phe）浓度处于理想目标范围（120 - 250μmol/L）的时间比例之间存在负相关（r = -0.474，p = 0.026）。
PKU的管理给患者家庭带来了沉重的经济负担，这可能导致治疗不足或血Phe浓度波动。当前的报销政策尚不充分。必须建立一个针对中国PKU患者及其他罕见病治疗的全国性报销体系。
