CAJ | 학술논문

目的：调查分析南疆首例维吾尔族 Bardet-Biedl 综合征患儿的临床特点，总结诊治经验。方法对患儿进行病史采集，体格检查，实验室检查，影像学检查等，请儿科，骨外科，麻醉科，眼科，口腔科，放射科等多学科联合会诊以协助诊断。结果多科会诊后确定患儿存在支气管肺炎，肥胖，智力低下，12，22，32，42切牙缺失，DⅠ乳牙滞留，双手6指畸形，双足6趾畸形，阴茎短小，夜盲，视网膜色素变性，高度近视等问题。结论患儿确诊为 Bardet-Biedl 综合征，检索中外文文献，南疆地区未见本病的报道。我们首次在南疆地区报道了罕见的 Bar-det-Biedl 综合征患儿。目前该病尚无根治方法，主要给以对症治疗，提高其生活质量。
목적：조사분석남강수례유오이족 Bardet-Biedl 종합정환인적림상특점，총결진치경험。방법대환인진행병사채집，체격검사，실험실검사，영상학검사등，청인과，골외과，마취과，안과，구강과，방사과등다학과연합회진이협조진단。결과다과회진후학정환인존재지기관폐염，비반，지력저하，12，22，32，42절아결실，DⅠ유아체류，쌍수6지기형，쌍족6지기형，음경단소，야맹，시망막색소변성，고도근시등문제。결론환인학진위 Bardet-Biedl 종합정，검색중외문문헌，남강지구미견본병적보도。아문수차재남강지구보도료한견적 Bar-det-Biedl 종합정환인。목전해병상무근치방법，주요급이대증치료，제고기생활질량。
Objective To investigate the clinical characteristics of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang,and summarize the experiences on diagnosis and therapy. Methods The data on medical history,physical examination,laboratory examination and imaging examination were collected.Department of pediatrics,orthopedics,anesthesiol-ogy,ophthalmology,stomatology and radiology all took part in the consultation. Results After multi-discipline consultation, the child was proved to be suffered with bronchopneumonia,obesity,mental retardation,absence of 1 2,22,32,42 incisors,DⅠdeciduous tooth retention,Polydactyly (six fingers)of both hands and feet,microcaulia,night blindness,retinitis pigmento-sa,and high myopia. Conclusion Based on the history and clinical presentation,the child was diagnosed with Bardet-Biedl syndrome.After retrieving literature database in English and Chinese,we found out that there is no report on Bardet-Biedl syn-drome in southern Xinjiang previously.Thus,we report the first Uyghur case of Bardet-Biedl syndrome in this area.Nowadays, there is no method to cure this disease totally,and symptomatic treatment could improve the patient's living condition partially.