4例Prader-Willi综合征（PWS）患儿均为女性，确诊年龄6~12岁，均有肥胖，特殊面容，发育迟缓、智力障碍等临床表现，遗传学检测提示其中2例为15q11.2-q13区域父源性缺失，1例为15q11.2-q13区域母源性同源二倍体，1例15q11.2-q13区域未发现异常。4例患者存在不同程度的内分泌代谢紊乱：2例身材矮小，其中1例第二性征延迟，另1例合并2型糖尿病；1例表现为胰岛素抵抗，无乳腺发育；1例患儿的身高处于P3~P10，性早熟。PWS患者存在多种内分泌功能紊乱，长期内分泌专科随访及管理十分重要。
Abstract
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11.2-q13 region. All patients had varying degrees of endocrine and metabolic disorders:2 patients had short stature, among whom one had delayed appearance of secondary sex characteristics and the other one had type 2 diabetes; one patient had insulin resistance and no mammary gland development; one patient had a body height of P3-P10 and precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.
关键词
Prader-Willi综合征 /
肥胖 /
内分泌代谢异常 /
儿童
Key words
Prader-Willi syndrome /
Obesity /
Endocrine and metabolic disorder /
Child
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
[1] Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome:a review of clinical, genetic, and endocrine findings[J]. J Endocrinol Invest, 2015, 38(12):1249-1263.
[2] Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome[J]. Int J Pediatr Endocrinol, 2013, 2013(1):14.
[3] 中华医学会儿科学分会内分泌遗传代谢学组. 中国Prader-Willi综合征诊治专家共识[J]. 中华儿科杂志, 2015, 53(6):419-424.
[4] Elena G, Bruna C, Benedetta M, et al. Prader-Willi syndrome:clinical aspects[J]. J Obes, 2012, 2012(10):473941.
[5] 詹实娜, 何玺玉, 王春枝, 等. 新生儿Prader-Willi综合征13例临床表型分析[J]. 中国循证儿科杂志, 2012, 7(3):200-204.
[6] 刘虎, 钟家蓉. 新生儿Prader-Willi综合征5例临床报道[J]. 中外女性健康研究, 2015, 8(16):198-199.
[7] 王萍, 周伟, 魏谋, 等. 新生儿Prader-Willi综合征7例并文献复习[J]. 中华实用儿科临床杂志, 2013, 28(20):1571-1574.
[8] 黄新疆, 毛晓健, 刘丽, 等. 中国南方Prader-Willi综合征患儿27例临床表现及分子特征分析[J]. 中华实用儿科临床杂志, 2016, 31(8):573-578.
[9] Diene G, Mimoun E, Feigerlova E, et al. Endocrine disorders in children with Prader-Willi syndrome-data from 142 children of the French database[J]. Horm Res Paediatr, 2010, 74(2):121-128.
[10] 黄永兰, 林文春, 黄俊菁. 肥胖儿童胰岛素抵抗和代谢综合征的临床研究[J]. 中国儿童保健杂志, 2011, 19(2):164-166.
[11] 朱延华, 杨黛稚, 李津, 等. Prader-Willi综合征患者一例胰岛素敏感性分析及文献复习[J]. 中华糖尿病杂志, 2012, 4(3):159-161.
[12] Deal CL, Tony M, Hoybye C, et al. Growth hormone research society workshop summary:consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome[J]. J Clin Endocrinol Metab, 2013, 98(6):E1072-1087.
[13] Siemensma EP, de Lind van Wijngaarden RF, Otten BJ, et al. Testicular failure in boys with Prader-Willi syndrome:longitudinal studies of reproductive hormones[J]. J Clin Endocrinol Metab, 2012, 97(3):E452-E459.
[14] Siemensma EP, van Alfen-van der Velden AA, Otten BJ, et al. Ovarian function and reproductive hormone levels in girls with Prader-Willi syndrome:a longitudinal study[J]. J Clin Endocrinol Metab, 2012, 97(3):E1766-E1773.
[15] 高力敏. 1例Prader-Willi综合征合并桥本氏甲状腺炎临床及分子遗传学研究[D]. 太原:山西医科大学, 2011.
[16] 许德荣, 李书纲. 1例Prader-Willi综合征合并脊柱侧凸患儿的诊治报道[J]. 中华骨与关节外科杂志, 2015, 8(6):531-533.
基金
国家自然科学基金资助（81370930；81201353；81472051）；国家重点研发计划重大慢性非传染性疾病防控研究重点专项（2016YFC1305200）。
PDF(1194 KB)
