Objective: To explore the clinical characteristics and healthcare burden in patients with McCune-Albright syndrome (MAS). Methods: A cross-sectional study was conducted at the Children's Hospital, Zhejiang University School of Medicine. Clinical and healthcare burden data were systematically collected through structured questionnaires in 164 children with MAS from February 2022 to May 2023. According to the clinical characteristics, patients were categorized into 3 groups: monosymptomatic, bisymptomatic and trisymptomatic groups. Patients were also divided into 3 groups according to the age of <7, 7-<10 and 10-18 years. Comparative analyses of clinical characteristics and healthcare burden were conducted across age, sex, and symptom categories. Results: The cohort comprised 59 males (36.0%) and 105 females (64.0%) with an age of 4.6 (2.0, 7.4) years. Age stratification revealed 117 cases (71.3%) aged 0-<7 years, 29 cases (17.7%) aged 7-<10 years, and 18 cases (11.0%) aged 10-<18 years. Among monosymptomatic (67 cases, 40.9%), the cohort comprised 32 females (47.8%) and 35 males (52.2%), predominantly presenting with fibrous dysplasia (57 cases, 85.1%). This subgroup showed peak prevalence in the 0-<7 years age range (29 cases (50.9%)). The bisymptomatic cohort (56 cases, 34.1%) consisted of 39 females (69.6%) and 17 males (30.4%), predominantly manifesting fibrous dysplasia with skin hyperpigmentation (25 cases, 44.6%). Peak prevalence occurred in the 0-<7 years subgroup(16 cases (64.0%)). The trisymptomatic cohort (41 cases, 25.0%) consisted of 34 females (82.9%) and 7 males (17.1%), with peak prevalence occurring in the 0-<7 years subgroup (36 cases (87.8%)). The diagnostic journey analysis revealed 94 cases (57.3%) required 1-3 referrals, and 34 cases (20.7%) necessitated >3 referrals from symptom onset to definitive diagnosis. Healthcare expenditure analysis revealed 69 families (42.1%) incurred direct medical costs of 10 000-100 000 CNY, with 11 families (6.7%) exceeding >100 000 CNY. Direct non-medical costs reached of 10 000-100 000 CNY for 62 families (37.8%) and >100 000 CNY for 4 families (2.4%). Productivity loss affected 58 families (35.4%) at 10 000-100 000 CNY and 8 families (4.9%) above 100 000 CNY during the study period. Conclusion: MAS requires increased attention to skeletal manifestations, especially in children aged 0-<7 years. Moreover, the significant financial burden on families necessitates a society-wide support system.
目的： 探究McCune-Albright 综合征临床特征及医疗负担。 方法： 横断面研究。收集2022年2月至2023年5月在浙江大学医学院附属儿童医院接受调查问卷的164例McCune-Albright 综合征患儿的临床特征及医疗负担数据。根据临床症状分为一联征、二联征和三联征组。根据患儿年龄分为0~<7岁、7~<10岁和10~18岁组。分析不同年龄不同性别的临床特征和不同临床症状的医疗负担特征。 结果： 164例患儿中男59例（36.0%）、女105例（64.0%），就诊年龄4.6（2.0，7.4）岁。0~<7岁组117例（71.3%），7~<10岁组29例（17.7%），10~18岁组18例（11.0%）。一联征组共67例（40.9%），女32例（47.8%）、男35例（52.2%），以骨病变为主［57例（85.1%）］，其中0~<7岁最多［29例（50.9%）］。二联征组共56例（34.1%），女39例（69.6%）、男17例（30.4%），以骨病变合并皮肤牛奶咖啡斑为主［25例（44.6%）］，其中0~<7岁最多［16例（64.0%）］。三联征组共41例（25.0%），女34例（82.9%）、男7例（17.1%），其中0~<7岁最多［36例（87.8%）］。患儿从出现症状到确诊，94例（57.3%）患儿转诊1~3次，34例（20.7%）患儿转诊>3次。过去一年，患儿家庭因治疗直接医疗费用1万~10万元69例（42.1%），>10万元11例（6.7%）；直接非医疗费用1万~10万元62例（37.8%），>10万元4例（2.4%）；误工费用1万~10万元58例（35.4%），>10万元8例（4.9%）。 结论： 需更多关注McCune-Albright综合征中骨骼问题，特别是0~<7岁年龄段。家庭经济负担较大，需要全社会关注。.