McCune-Albright综合征合并低血磷性佝偻病4例并文献复习

目的：总结4例McCune-Albright综合征合并低血磷性佝偻病患者的临床资料，以提高临床医师对该病的认识。方法回顾性分析北京协和医院确诊的4例McCune-Albright综合征合并低血磷性佝偻病患者的临床表现、实验室检查、影像学特点、治疗及转归，并进行文献复习。结果临床特点：4例McCune-Albright综合征合并低血磷性佝偻病患者均为女性，10岁前起病，均为多骨型骨纤维异样增殖症，主要临床表现为骨痛、骨骼畸形和脆性骨折。其中2例合并甲状腺功能亢进，2例合并周围性性早熟。实验室检查：4例患者均显示低磷血症（0.53～1.03mmol/L）和高碱性磷酸酶水平（464～1930U/L），3例患者血β-1型胶原交联羧基末端肽（β-CTX）水平升高，2例患者血全长成纤维细胞生长因子23（intactFGF23）水平升高。影像学特点：4例患者影像学检查结果均符合骨纤维异常增殖症。其中3例患者有典型的佝偻病表现。4例患者均接受全身骨扫描显像，3例患者全身骨骼多发放射性浓聚区。治疗及转归：经给予活性维生素D、中性磷合剂和双膦酸盐，患者的临床症状和生化异常均显著改善。复习文献发现，患者起病越早，骨骼病变相对越重、血磷越低、骨转换指标升高越明显、血FGF23水平越高。结论McCune-Albright综合征合并低血磷性佝偻病是罕见病。对McCune-Albright综合征患者需注意筛查是否合并低血磷性佝偻病，以避免漏诊，改善预后。

McCune-Albright syndrome with hypophosphatemic rickets in four Chinese patients and literature review

Objective To investigate the clinical characteristics of McCune-Albright syndrome with hypophos-phatemic rickets and improve the awareness of the disease .Methods Clinical data of four patients with McCune-Al-bright syndrome and hypophosphatemic rickets were retrospectively analyzed , including clinical manifestations , biochemi-cal parameters , radiographic characteristics , treatment and prognosis .Literature review was also conducted to survey the prevalence and clinical features of the disease .Results The four cases analyzed were all females and presented with polyostotic fibrous dysplasia .The onset of McCune-Albright syndrome with hypophosphatemic rickets was before 10 years old.The common manifestations were bone pain , bone deformities and fragility fractures .Hyperthyroidism appeared in two patients , and peripheral precocious puberty existed in the other two patients .Laboratory assessment showed hypophos-phatemia and increased serum alkaline phosphatase levels in all four patients .Serumβ-CTX and intact FGF23 levels were increased in three and two patients , respectively .Radiographic analysis indicated fibrous dysplasia in all patients , while typical rickets were only seen in three patients .Bone scan showed diffuse increased uptake in affected areas in three pa-tients.Bisphosphonate and supplementation of active vitamin D and phosphorus were proven to be efficacious .Systematic review of literatures revealed that patients with earlier onset of McCune-Albright syndrome and hypophosphatemic rickets suffer from more severe manifestations , lower serum phosphate levels , higher bone turnover markers and FGF 23 levels. Conclusion McCune-Albright syndrome accompanied by hypophosphatemic rickets are relatively rare in clinical prac -tice, in which patients should take examinations in order to screen for hypophosphatemic rickets , therefore avoid the mis-diagnosis and improve patients＆#39;prognosis .