目的: 了解佛山市苯丙酮尿症（phenylketonuria）患者医疗保障及疾病负担情况,探讨建立完善佛山市苯丙酮尿症多层次医疗保障体系的具体路径。方法: 通过政策文献研究、问卷调查、专题访谈、数据收集和比较分析等方法,总结国内外相关经验,全面了解佛山市苯丙酮尿症实际保障情况,模拟测算提升苯丙酮尿症患者保障水平后医保基金可负担情况。结果: 佛山市苯丙酮尿症患者疾病负担较重,其特医食品可及性较低;提高特医食品保障水平,对作为主要保障来源的佛山市妇幼保健院新筛专项基金影响较大,保障可持续性不足;将特医食品纳入普惠型商业补充医疗保险保障范围,补充医疗保险基金可承受;将苯丙酮尿症纳入门诊特定病种保障范围,基本医疗保险基金可承受。结论: 可以将治疗苯丙酮尿症的特医食品纳入普惠型商业补充医疗保险保障范围,将苯丙酮尿症纳入基本医疗保险门诊特殊病种管理,适当放宽苯丙酮尿症医疗救助认定条件;加强多部门合作,充分发挥慈善捐赠和社会救助保障作用,建立苯丙酮尿症多层次保障体系,提高佛山市苯丙酮尿症患者的保障水平。

Objective: The paper attempts to understand the medical security and disease burden of phenylketonuria (PKU) in Foshan City, and to explore the specific path to establish a multi-level medical security system of PKU in Foshan City. Methods: Based on policy literature research, questionnaire investigation, interviews, data collection and comparative analysis, we summarize relevant experience at home and abroad to comprehensively understand the guarantee level of PKU in Foshan City, and to simulate and predict the affordability of medical insurance fund after improving the guarantee level of patients with PKU. Results: The disease burden of patients with PKU is still heavy in Foshan City, and the accessibility of Food for Special Medical Purpose (FSMP) is still low. Improving the guarantee level of FSMP has a significant impact on the Special Fund for Neonatal Screening of Foshan Women and Children Hospital, which is the main source of security, and the sustainability of security is insufficient. The supplementary medical insurance fund will be able to support the inclusion of FSMP into the scope of inclusive commercial supplementary medical insurance. The basic medical insurance fund can be affordable to include PKU into the scope of Outpatient Special Diseases. Conclusion: A multi-level security system for PKU can be established by including FSMP into the coverage of inclusive commercial supplementary medical insurance, including PKU into the management of Outpatient Special Diseases guaranteed by basic medical insurance, appropriately extending the conditions for the identification of medical assistance for PKU, strengthening multi-sector cooperation, giving full play to the role of charitable donations and social assistance and security, establishing a multi-level security system for PKU and improving the security level of PKU patients in Foshan.