本文選題：McCune-Albright + syndrome��； 參考：《河北醫(yī)科大學》2017年碩士論文

【摘要】：目的:分析McCune-Albright syndrome(MAS)患兒的臨床特點,提高臨床對于MAS患兒的診治水平。方法:詳細分析兩例有典型三聯(lián)征的女性MAS患兒的病史、臨床表現(xiàn)、輔助檢查及診療經(jīng)過,并進行相關文獻復習。結(jié)果:兩例患兒均為出生時即存在牛奶咖啡斑、病初以嬰幼兒期陰道出血為首發(fā)癥狀�；純�1于1歲2月時出現(xiàn)陰道出血,激素水平示血黃體生成素(luteinizing hormone,LH)0.1U/L,雌二醇(estradiol,E2):141.5pg/ml,應用來曲唑控制外周性性早熟,雌激素水平下降,性征消退。患兒存在甲狀腺功能亢進癥,抗甲狀腺藥物控制不理想,應用放射性碘治療;存在低磷血癥,應用骨化三醇治療,目前考慮加用磷酸鹽合劑治療�；純�1發(fā)生2次病理性骨折,目前應用固邦抑制骨吸收,并常規(guī)補充維生素AD和鈣劑�；純�2于1歲11月時出現(xiàn)陰道出血,行‘左卵巢囊腫剝離術’,性征消退,后患兒再次出現(xiàn)陰道出血,診斷為MAS,先后應用他莫昔芬、來曲唑控制發(fā)育,后期患兒再次出現(xiàn)陰道出血,促性腺激素釋放激素(luteinizing hormone releasing hormone,LHRH)激發(fā)試驗提示LH峰值為8.85m IU/ml,繼發(fā)中樞性性早熟,加用促性腺激素釋放激素類似物(gonadotropin releasing hormone analogue,Gn RHa)聯(lián)合控制發(fā)育,患兒存在骨痛、多發(fā)性骨纖維結(jié)構不良(poly fibrous dysplasia,PFD),靜脈應用雙磷酸鹽治療骨痛、預防骨折,骨代謝指標較前明顯好轉(zhuǎn)。兩例患兒均行外周血基因突變分析,均為陰性。結(jié)論:MAS是基因突變導致的臨床多系統(tǒng)受累綜合征,臨床表現(xiàn)復雜,對于存在牛奶咖啡斑、內(nèi)分泌功能障礙和/或病理性骨折患兒,需高度懷疑此病。外周血基因突變分析陰性,不能除外MAS。治療主要是對癥治療,多學科的參與有助于改善患兒預后。
[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.
【學位授予單位】：河北醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R726.8

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