Abstract: Objective　To conduct a preliminary investigation in the course of seeking medical care，and analyze the economic burden and cost of the patients with rare genetic diseases.Methods　The data of 372 cases of rare genetic diseases were collected from the Out-patient Department of Pediatrics of Peking University First Hospital from April to December 2019 and the data were analyzed.Results　A total of 372 cases of 93 genetic diseases were involved in the study There were.There were 226 cases of inherited metabolic disorders.The patients came from 32 provinces or cities.The onset age ranged from 2 days to 27 years old and they were aged one month to 30 years when investigated.Before the patients got definite diagnosis，61% of them spent 1 to 26 years receiving treatment and visited 3 to 6 hospitals.The patients had various presentations：58% of them had acute onset，and many patients had convulsions or acute encephalopathy as the first symptoms.Some patients showed chronic diseases，such as psychomotor retardation or retrogression；57% of the patients visited hospitals right after the disease onset，whereas only 4.3% of them got the correct initial diagnosis，and the cost was less than 10，000 yuan.Patients spent different amount of money on non-appropriate treatment before they got the correct diagnosis.About 4.3% of them spent less than 10，000 yuan；40.9% of the patients spent 10，000 to 90，000 yuan；23.9% of the patients spent 100，000 to 190 000 yuan；22.9% of the patients spent 200 000 to 490.000 yuan；8.9% of the patients spent more than 500，000 yuan.About 70.0% of patients were diagnosed with various diseases，such as cerebral palsy，intellectual and motor retardation，epilepsy，kidney failure，neonatal hemolysis，hypoxic ischemic encephalopathy，anemia，autism and psychosis before they had the correct diagnosis.Most patients got non-appropriate rehabilitating therapy；34.4% of patients had received non-appropriate physical or medical treatment，which cost them more than 100，000 yuan.Conclusion　Most of the genetic diseases present with non-specific symptoms and are with high mortality and disability.Early definite diagnosis and timely precise treatment is the keys to improving prognosis and saving the medical resources.Public medical education，newborn screening and high－risk screening are important to improve the ability of identifying，diagnosing，treating and preventing genetic diseases.

Key words: genetic disease, rare disease, inherited metabolic disorders, misdiagnosis

摘要： 目的　对罕见遗传病患者的诊疗状况进行初步调查，就患者的疾病负担及成本构成进行分析。 方法　对北京大学第一医院儿科2019年4~12月门诊就诊的372例罕见遗传病患儿及其家庭进行调查，统计资料并分析。结果　372例中包括93种罕见遗传病，其中遗传代谢病226例，来自32个省市自治区，发病年龄从日龄2d到27岁，调查时年龄1月龄至30岁。确诊前，61.0%的患者辗转就医1～26年，经历3～6家医院。患者发病形式多样，58%的患者为急性发病，多以惊厥为首发症状。一些患者为慢性起病，如智力运动落后或倒退。57%的患者发病后及时就医。仅4.3%的患者在初诊时得到正确诊断，从发病到确诊花费＜1万元。患者在确诊前因盲目诊治花费了不同的费用，其中花费医疗费用＜1万元的占4.3%，40.9%的患者花费的医疗费用为1～9万，23.9%的患者花费的医疗费用为10～19万，22.0%的患者花费的医疗费用为20～49万，8.9%的患者确诊前花费的医疗费用在50万元以上。70.0%的患者在得到确诊前被诊断为脑瘫、智力运动落后、癫痫、肾功能衰竭、新生儿溶血、缺血缺氧性脑病、贫血、孤独症、精神病等多种疾病，并接受过盲目康复治疗，34.4%的患者曾接受理疗、药物等治疗，花费在10万以上。结论　多数遗传病缺乏特异性，致死致残率很高，早期诊断、及时精准干预是改善预后、节约医疗资源的关键，需加强科普及医师继续教育，推广新生儿筛查及高危筛查，提高识别、诊疗及防控能力。

关键词: 遗传病, 罕见病, 遗传代谢病, 误诊