McCune-Albright综合征患儿临床特征分析  

Analysis of clinical features in children with McCune-Albright syndrome

作　　者：张米妮 余婷婷 符皓 张偲[1] 吴薇[1] 候凌 罗小平[1] 梁雁[1] Zhang Mini;Yu Tingting;Fu Hao;Zhang Si;Wu Wei;Hou Ling;Luo Xiaoping;Liang Yan(Department of Pediatrics,Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology,Wuhan 430015)

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,武汉430015

出　　处：《中华实用儿科临床杂志》2022年第24期1883-1887,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的总结分析26例儿童McCune-Albright综合征(MAS)的临床特征,以期提高对MAS诊疗的认识,实现早期临床诊断。方法回顾性分析2011年8月至2021年6月在华中科技大学同济医学院附属同济医院儿科就诊的26例MAS患儿的临床资料,总结分析其临床特点。采用t检验、Mann-Whitney U检验、χ^(2)检验或Fisher′s确切概率法进行组间比较。结果1.共纳入MAS患儿26例(女22例、男4例),女性平均起病年龄为(5.87±2.94)岁,男性平均起病年龄为(7.48±3.36)岁。2.女性患儿中,典型三联征7例,非典型三联征15例。3.首发症状:女性患儿阴道出血8例、乳房早发育14例;4例男性患儿,1例因"骨折"就诊,3例因"身高落后于同龄人"就诊。4.与乳腺发育组比,阴道出血组患儿起病年龄早[(4.06±1.88)岁比(7.82±1.82)岁](t=5.023,P<0.001)、骨龄超前明显[(1.26±0.07)比(1.09±0.13)](t=2.933,P<0.05)、预期终身高受损严重[(-2.16±0.98)SDS比(-0.96±1.09)SDS](t=1.352,P<0.05)、血磷水平低[(1.41±0.14)nmol/L比(1.67±0.24)nmol/L](t=1.941,P<0.05)、碱性磷酸酶水平高[339(313,656)U/L比243(205,452)U/L](U=1.000,P<0.05)。阴道出血组8例患儿均存在骨纤维发育不良。5.10例患儿转为中枢性性早熟(CPP),转为CPP组与未转为CPP组相比,起病年龄晚[(7.27±2.69)岁比(4.69±2.68)岁](U=44.000,P<0.05)、确诊时骨龄超前明显[(1.23±0.11)比(1.01±0.13)](t=1.834,P<0.05)、预期终身高低[(152.00±4.62)cm比(162.10±6.91)cm](t=3.805,P<0.05)。6.11例患儿出现骨纤维发育不良,多数(8例)为多骨纤维结构不良,好发部位为下肢骨、颅骨。7.20例患儿出现皮肤牛奶咖啡斑,散在分布,其中35%(7/20)的患儿皮肤牛奶咖啡斑越过中线。结论MAS临床表现复杂,女童发病常见且较男童早,男性患儿起病隐匿,症状不典型,临床诊断相对困难。以阴道出血为首发症状的MAS患儿通常起病年龄早,骨龄超前明显,预期终身高较低,临床需注意监测和评估。在MAS患儿�Objective To summarize and analyze the clinical features of McCune-Albright syndrome(MAS)in 26 children,to improve the understanding of MAS diagnosis and treatment,and to achieve early clinical diagnosis of MAS.Methods The clinical data of 26 children with MAS treated in Department of Pediatrics,Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from August 2011 to June 2021 were retrospectively analyzed.Their clinical characteristics were summarized and studied.t-test,Mann-Whitney U test,χ^(2) test or Fisher′s exact probability method was used for comparison between groups.Results(1)Among the 26 MAS patients enrolled,there were 22 females and 4 males.The average onset age of female and male patients was(5.87±2.94)years old and(7.48±3.36)years old,respectively.(2)In female patients,there were 7 cases with the typical triad and 15 cases with the atypical triad.(3)Female patients had the first symptom of vaginal bleeding(8/22)and breast development(14/22).Among the 4 male children,1 case had"fracture"and 3 cases"lagged behind their peers in height"at the first visit.(4)Compared with the breast development group,the vaginal bleeding group had an earlier onset age[(4.06±1.88)years old vs.(7.82±1.82)years old](t=5.023,P<0.001),earlier bone maturation[(1.26±0.07)vs.(1.09±0.13)](t=2.933,P<0.05),a greatly lowered predicted adult height[(-2.16±0.98)SDS vs.(-0.96±1.09)SDS](t=1.352,P<0.05),a lower blood phosphorus level[(1.41±0.14)nmol/L vs.(1.67±0.24)nmol/L](t=1.941,P<0.05),and a significantly elevated alkaline phosphatase level[339(313,656)U/L vs.243(205,452)U/L](U=1.000,P<0.05).All patients(8 cases)in the vaginal bleeding group had fibrous dysplasia of bone.(5)Ten patients progressed to central precocious puberty(CPP).They showed an older average age of onset[(7.27±2.69)years old vs.(4.69±2.68)years old](U=44.000,P<0.05),significantly earlier bone maturation at diagnosis[(1.23±0.11)vs.(1.01±0.13)](t=1.834,P<0.05),and a lower predicted adult height[(152.0

关 键 词：MCCUNE-ALBRIGHT综合征 临床分析 阴道出血 骨纤维发育不良 牛奶咖啡斑 

分 类 号：R725.8[医药卫生—儿科]