Prader―Willi综合征合并糖尿病1例病例报道.docVIP

Prader―Willi综合征合并糖尿病1例病例报道 　　[摘要] 本文报告1例Prader-Willi综合征（PWS）合并糖尿病患者，本例患者于1996年诊断为糖尿病，2015年行基因检查明确诊断为PWS。本次入院主要表现为多食、肥胖和难以控制的高血糖。治疗方面，严格控制饮食并结合运动，起始降糖方案为口服降糖药物联合胰岛素，治疗效果不明显，后加用GPL-1类似物，血糖水平较前有明显改善。PWS是一种比较少见的遗传性肥胖综合征，因相关基因表达缺失导致下丘脑功能不全，引起神经内分泌功能紊乱进而出现多食、肥胖、生长发育不良等复杂的临床表现，早期诊断和及时干预对本病的预后至关重要。 　　[关键词] Prader-Willi综合征；肥胖；糖尿病；GLP-1类似物 　　[中图分类号] R58 [文献标识码] A [文章编号] 1673-7210（2017）10（b）-0170-04 　　Report a case of Prader-Willi syndrome complicated with diabetes mellitus 　　YANG Tao1 GONG qing2 WANG Shidong2 CHUO Wenjing3 LI Jiayue2 WANG Ge2 　　1.The First Clinical Medical College， Beijing University of Chinese Medicine， Beijing 100029，China； 2.Department of Endocrinology of Renal Disease， Dong Zhimen Hospital， Beijing 100700， China； 3.Beijing First Hospital of Traditional Chinese Medicine and Western Medicine， Beijing 100026，China 　　[Abstract] This paper reports a case of Prader-Willi syndrome （PWS） with diabetes mellitus， the patient was diagnosed with diabetes in 1996 and was diagnosed with PWS by genetic examination in 2015， the major clinical manifestations are overeating， obesity， and uncontrollable hyperglycemia. In terms of treatment， strict diet control and exercise， the initial hypoglycemic program for oral hypoglycemic drugs combined with insulin， but the efficacy of this treatment is not obvious， and after the use of GPL-1 analogues， the patients blood glucose levels improved significantly. PWS is a rare syndrome of genetic obesity， due to lack of related gene expression of hypothalamic dysfunction caused by neuroendocrine dysfunction and polyphagia， obesity， poor growth and development of such complicated clinical manifestations. The early diagnosis and timely intervention is important for prognosis of the disease. 　　[Key words] Prader-Willi syndrome； Obesity； Diabetes； GLP-1 analogues 　　Prader-Willi综合征（PWS）是一种比较少见的遗传性肥胖综合征，其发病基础是15q11-q13位点父源染色体上的候选基因表达缺失[1]。最近研究数据显示，本病出生发病率在1/29 000，平均病死率3%[2]。本病多见于男性，国内1项研究分析了46例PWS患者，发现男女患病比例为3∶2[3]；国外同样有学者对75例PWS患儿