McCune-Albright syndrome两例临床分析并文献复习

发布时间：2018-06-25 07:25

本文选题：McCune-Albright + syndrome　；参考：《河北医科大学》2017年硕士论文

【摘要】：目的:分析McCune-Albright syndrome(MAS)患儿的临床特点,提高临床对于MAS患儿的诊治水平。方法:详细分析两例有典型三联征的女性MAS患儿的病史、临床表现、辅助检查及诊疗经过,并进行相关文献复习。结果:两例患儿均为出生时即存在牛奶咖啡斑、病初以婴幼儿期阴道出血为首发症状。患儿1于1岁2月时出现阴道出血,激素水平示血黄体生成素(luteinizing hormone,LH)0.1U/L,雌二醇(estradiol,E2):141.5pg/ml,应用来曲唑控制外周性性早熟,雌激素水平下降,性征消退。患儿存在甲状腺功能亢进症,抗甲状腺药物控制不理想,应用放射性碘治疗;存在低磷血症,应用骨化三醇治疗,目前考虑加用磷酸盐合剂治疗。患儿1发生2次病理性骨折,目前应用固邦抑制骨吸收,并常规补充维生素AD和钙剂。患儿2于1岁11月时出现阴道出血,行‘左卵巢囊肿剥离术’,性征消退,后患儿再次出现阴道出血,诊断为MAS,先后应用他莫昔芬、来曲唑控制发育,后期患儿再次出现阴道出血,促性腺激素释放激素(luteinizing hormone releasing hormone,LHRH)激发试验提示LH峰值为8.85m IU/ml,继发中枢性性早熟,加用促性腺激素释放激素类似物(gonadotropin releasing hormone analogue,Gn RHa)联合控制发育,患儿存在骨痛、多发性骨纤维结构不良(poly fibrous dysplasia,PFD),静脉应用双磷酸盐治疗骨痛、预防骨折,骨代谢指标较前明显好转。两例患儿均行外周血基因突变分析,均为阴性。结论:MAS是基因突变导致的临床多系统受累综合征,临床表现复杂,对于存在牛奶咖啡斑、内分泌功能障碍和/或病理性骨折患儿,需高度怀疑此病。外周血基因突变分析阴性,不能除外MAS。治疗主要是对症治疗,多学科的参与有助于改善患儿预后。
[Abstract]:Aim: to analyze the clinical features of patients with McCune-Albright syndrome (MAS) and to improve their diagnosis and treatment. Methods: the history, clinical manifestation, adjuvant examination, diagnosis and treatment of two cases of female MAS with typical triple sign were analyzed in detail. Results: both cases had coffee spots in milk at birth, and the first symptom was vaginal hemorrhage in infantile stage. Vaginal bleeding occurred at 1 year and 2 months old. Hormone level showed that luteinizing hormone LH was 0.1 U / L, estradiol E 2 was 141.5 PG / ml, which should be used to control peripheral precocious puberty, estrogen level decreased and sex character subsided. Children with hyperthyroidism, antithyroid drug control is not ideal, the use of radioactive iodine treatment, there is hypophosphatemia, the use of ossification triol treatment, currently considering the use of phosphate mixture treatment. There were 2 pathological fractures in the first child. At present, Gubang was used to inhibit bone resorption, and vitamin A D and calcium were routinely supplemented. In the second child, vaginal bleeding occurred at the age of 1 year and November, the patient underwent 'left ovarian cyst excision, the sex sign subsided, then the child again appeared vaginal hemorrhage, diagnosed as MAS. he was successively treated with tamoxifen and letrozole to control development. The gonadotropin releasing hormone (luteinizing hormone releasing hormoney) stimulation test showed that the peak value of LH was 8.85 m / ml, and the secondary central precocious puberty was secondary, and the gonadotropin releasing hormone analogue (gonadotropin releasing hormone analogueGn RHa was used to control the development. Bone pain and multiple fibrous dysplasia (poly fibrous dysplasia) were found in children. Bisphosphate was used to treat bone pain in order to prevent fracture. The indexes of bone metabolism were improved obviously. The gene mutation in peripheral blood was negative in both cases. ConclusionMas is a clinical multi-system syndrome caused by gene mutation, and its clinical manifestations are complicated. It is necessary to highly doubt the presence of milk coffee spots, endocrine dysfunction and / or pathological fractures in children. The peripheral blood gene mutation analysis is negative, can not exclude the MASs. Treatment is mainly symptomatic, and multidisciplinary involvement helps to improve the prognosis of children.
【学位授予单位】：河北医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R726.8

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