CAJ | 학술논문

Prader-Willi综合征(Prader-Willi syndrome,PWS)是一种罕见的肥胖综合征,发病率约为1/25 000,PWS的分子遗传学基础是15q11-q13位点父源染色体上的候选基因表达缺失.临床以多食、肥胖、身材矮小、发育迟缓、出生后低张力、性腺功能低下以及生长激素缺乏为特征.其表现随年龄增长而变化:胎儿期及新生儿期以胎动少,婴儿肌张力低下,哭声弱,喂养困难为主要表现;婴幼儿期患儿生长发育不良,运动语言发育差;儿童期因多食导致肥胖,呈矮胖外观,认知功能损害参差不齐;青春期以肥胖、性腺发育不良,学习困难为特征.明确诊断需根据Holm及Cassidy等人于1993年所提出的诊断标准并结合基因诊断.由于Prader-Willi综合征患者的治疗存在多方面问题,单一的干预治疗未必合理,最好针对不同个体,制定出一系列的治疗方案,以求最佳效果.
Prader-Willi종합정(Prader-Willi syndrome,PWS)시일충한견적비반종합정,발병솔약위1/25 000,PWS적분자유전학기출시15q11-q13위점부원염색체상적후선기인표체결실.림상이다식、비반、신재왜소、발육지완、출생후저장력、성선공능저하이급생장격소결핍위특정.기표현수년령증장이변화:태인기급신생인기이태동소,영인기장력저하,곡성약,위양곤난위주요표현;영유인기환인생장발육불량,운동어언발육차;인동기인다식도치비반,정왜반외관,인지공능손해삼차불제;청춘기이비반、성선발육불량,학습곤난위특정.명학진단수근거Holm급Cassidy등인우1993년소제출적진단표준병결합기인진단.유우Prader-Willi종합정환자적치료존재다방면문제,단일적간예치료미필합리,최호침대불동개체,제정출일계렬적치료방안,이구최가효과.
Prader-Willi syndrome is a rare genetic disorder,affecting 1 out of 25,000 births,in which a critical region of chromosome 15,the 15q11-q13 region,is affected.At birth,PWS infants exhibit severe hypotonia that partially improves,explaining in part suckling and swallowing troubles and the delay in psychomotor development.Characteristic facial features and very small hands and feet are frequently observed at this age.After this initial phase,the most striking signs appear:hyperphagia and absence of satiety often lead to severe obesity in affected children.Other endocrine abnormalities in association with the hypothalamic-pituitary abnormalities contribute tO the clinical pictures of short stature due to a growth hormone deficiency and incomplete pubertal development.The degree of cognitive dysfunction varies widely from one child to another.It is associated with learning disabilities and impaired speech and language development worsened by psychological and behavioral troubles.The expert consensus is that diagnosis should be based on clinical criteria (Holm's criteria of 1993,revised in 2001) with confirmation by genetic study.Early diagnosis,early multidisciplinary care and growth hormone treatment have greatly improved the quality of life of these children.In adults,complications particularly linked to obesity and problems of autonomy are still very important.