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中华妇幼临床医学杂志(电子版) ›› 2021, Vol. 17 ›› Issue (04) : 459 -467. doi: 10.3877/cma.j.issn.1673-5250.2021.04.013

论著

Prader-Willi综合征婴幼儿期营养管理并文献复习
张霭润, 李嘉鸿, 李管明, 王敏, 房晓祎†()   
  • 收稿日期:2021-01-08 修回日期:2021-06-07 出版日期:2021-08-01
  • 通信作者: 房晓祎

Treatment strategies of nutrition management during infants and juveniles for Prader-Willi syndrome in infancy: a case report and literature review

Airun Zhang, Jiahong Li, Guanming Li, Min Wang, Xiaoyi Fang†()   

  • Received:2021-01-08 Revised:2021-06-07 Published:2021-08-01
  • Corresponding author: Xiaoyi Fang
  • Supported by:
    General Program of the National Natural Science Foundation of China(81874176); Graduate Education Innovation Program of Guangdong Province, 2019(2019JGXM05); General Program on Basis Science Research of the Project of Science and Technique of Shenzhen, 2020(JCYJ20190809145409829); Sanming Project of Medicine in Shenzhen, 2020(SZSM202011004)
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张霭润, 李嘉鸿, 李管明, 王敏, 房晓祎. Prader-Willi综合征婴幼儿期营养管理并文献复习[J]. 中华妇幼临床医学杂志(电子版), 2021, 17(04): 459-467.

Airun Zhang, Jiahong Li, Guanming Li, Min Wang, Xiaoyi Fang. Treatment strategies of nutrition management during infants and juveniles for Prader-Willi syndrome in infancy: a case report and literature review[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2021, 17(04): 459-467.

目的

探讨Prader-Willi综合征(PWS)患儿的诊治及婴幼儿期营养管理策略。

方法

选择2018年12月24日，因"生长发育迟缓"于中山大学附属第七医院儿科门诊就诊，之后确诊为PWS的1例女性患儿为研究对象。回顾性分析该患儿的临床病例资料，总结临床特点、治疗方案、婴幼儿期营养管理要点等。同时，检索国内外数据库中关于PWS患儿婴儿期营养管理研究相关文献进行文献复习。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求。

结果

①一般临床资料：患儿为女性，G1P1，出生胎龄为38+4周，经剖宫产术娩出，出生体重为2.6 kg(同胎龄新生儿第7百分位数)。②临床诊断及基因诊断：根据临床表现，包括生后肌张力低下、喂养困难，生长发育迟缓，有特征性面容，被疑诊为PWS患儿。根据甲基化特异性多重连接探针扩增法(MS-MLPA)基因检测结果为父源性15q11-13区域基因杂合缺失，被进一步确诊为PWS患儿。③采取精细化营养管理策略干预后，患儿体重、身长保持在同年龄段儿童第25~75百分位数，但是头围偏小(同年龄段儿童第3百分位数)，运动、智力发育落后，2个月龄后对其开始康复治疗。④文献检索结果：共计检索到9篇涉及191例PWS婴儿的营养管理研究文献报道，提示早诊断，制定有针对性的营养干预策略，可缩短患儿住院时间、预防生长发育迟缓及改善幼儿期肥胖结局。

结论

肌张力低下及喂养困难是PWS患儿在婴儿期主要表现。早诊断，制定针对性营养管理策略及康复治疗方案，可改善该病患儿在婴幼儿期的生存质量。

关键词: Prader-Willi综合征, 基因测定, 营养疗法, 营养支持, 治疗结果, 生长和发育, 婴儿
Objective

To investigate diagnosis and treatment strategies of nutritional management of Prader-Willi syndrome (PWS) in infancy.

Methods

A 40-day girl, who was set to the pediatric outpatient clinic due to growth retardation in the Seventh Affiliated Hospital, Sun Yat-sen University on December 24 in 2018 and finally diagnosed as PWS was selected into this study. Her clinical features, treatment and nutritional management strategies were analyzed retrospectively. Literature about diagnosis and nutritional management strategies of infants with PWS were retrieved based on domestic and foreign databases. This study was consistent with the World Medical Association Declaration of Helsinki revised in 2013.

Results

① General clinical data: this female infant (G1P1) was born with a gestational age of 38+ 4 weeks. Her birth weight was 2.6 kg (P7). ② Clinical diagnosis and gene diagnosis: according her evidenced by hypotonia, failure to thrive, characteristic dysmorphic facial features and feeding difficulty, she was diagnosed as PWS. Genetic examination by methylation-specific multiplex-ligation probe analysis (MS-MLPA) showed a lack of expression of genes on the paternally inherited chromosome 15q11-13 region. ③During infants and juveniles, this baby girl was took strict strategies of difference nutritional management, then her weight and length caught up and were maintained at the 25th to 75th percentage of the corresponding age and her head circumference was at the third percentage of the corresponding age. Early rehabilitation treatment was initiated from the second month of age to improve her motor and mental development. ④Related literature reviewed: a total of 9 pieces of related literature involving 191 infants with PWS whose treatment results were shorten the hospital stays, prevent growth retardation and improve the outcome of childhood obesity by strict strategies of difference nutritional management during infants and juveniles.

Conclusions

The early manifestation of children with PWS are hypotonia and feeding difficulties in infancy. Early diagnosis, targeted nutritional plan and rehabilitation treatment may improve the quality of life during early childhood.

Key words: Prader-Willi syndrome, Genetic testing, Nutrition therapy, Nutritional support, Treatment outcome, Growth and development, Infant
图1 本例PWS患儿(女性，40 d龄)MS-MLPA结果(DNA甲基化异常，15q11-13区域基因杂合缺失)
图2 本例PWS患儿父亲(26岁)MS-MLPA结果(DNA甲基化检测未见异常，15q11-13区域基因拷贝数未见异常)
图3 本例PWS患儿母亲(25岁)MS-MLPA检测结果(DNA甲基化检测未见异常，15q11-13区域基因拷贝数未见异常)
表1 本例PWS患儿3~17个月生长发育情况
年龄(月) 体重(kg) 身长(cm) 头围(cm) 精神运动发育情况
3 5.1 58.0 38.0 肌张力低下、自主活动少
6 8.0 66.0 41.0 俯卧可抬头、不可抬上半胸，不会独坐
9 8.0 70.0 42.3 可竖抱，独坐不稳，扶站直立差，无脊柱侧弯
12 8.6 73.5 42.3 可翻身、独坐，坐不稳，不会爬，扶站不可直立
17 10.2 81.5 43.5 会表示喜好，可独坐且稳，可扶站，可扶走，不可独走，可认人
24 12.7 89.0 43.5 会独走但不稳，可骑脚踏车，会走楼梯，会叫爸爸妈妈，可与人交流，认识陌生人与家人，怕生人
图4 本例PWS患儿1~24个月龄的生长发育曲线图(图4A：体重发育水平从低水平改善为中等水平；图4B：头围发育处于低水平；图4C：身长发育水平从低水平改善为中上水平；图4D：身长别体重从低水平改善为中上水平)
图5 本例PWS患儿(女性，9个月龄)外观特征(图5A、5B：小手、脚；图5C：皮肤白、头颅长、窄脸、杏仁眼；图5D：双尺骨边缘缺乏弧度)
[26]
Alsaif M, Elliot SA, MacKenzie ML, et al. Energy metabolism profile in individuals with Prader-Willi syndrome and implications for clinical management: a systematic review[J]. Adv Nutr, 2017, 8(6): 905-915. DOI: 10.3945/an.117.016253.
[27]
Butler MG, Miller JL, Forster JL. Prader-Willi syndrome-clinical genetics, diagnosis and treatment approaches: an update[J]. Curr Pediatr Rev, 2019, 15(4): 207-244. DOI: 10.2174/1573396315666190716120925.
[28]
Miller JL, Lynn CH, Shuster J, et al. A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome[J]. J Hum Nutr Diet, 2013, 26(1): 2-9. DOI: 10.1111/j.1365-277X.2012.01275.x.
[29]
Irizarry KA, Mager DR, Triador L, et al. Hormonal and metabolic effects of carbohydrate restriction in children with Prader-Willi syndrome[J]. Clin Endocrinol (Oxf), 2019, 90(4): 553-561. DOI: 10.1111/cen.13933.
[30]
Irizarry KA, Miller M, Freemark M, et al. Prader-Willi syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy[J]. Adv Pediatr, 2016, 63(1): 47-77. DOI: 10.1016/j.yapd.2016.04.005.
[31]
Poirier P, Cornier MA, Mazzone T, et al. Bariatric surgery and cardiovascular risk factors: a scientific statement from the American Heart Association[J]. Circulation, 2011, 123(15)：1683-1701. DOI: 10.1161/CIR.0b013e3182149099.
[32]
Tan Q, Orsso CE, Deehan EC, et al. Current and emerging therapies for managing hyperphagia and obesity in Prader-Willi syndrome: a narrative review[J]. Obes Rev, 2020, 21(5): e12992. DOI: 10.1111/obr.12992.
[33]
Scheimann AO, Butler MG, Gourash L, et al. Critical analysis of bariatric procedures in Prader-Willi syndrome[J]. J Pediatr Gastroenterol Nutr, 2008, 46(1): 80-83. DOI: 10.1097/01.mpg.0000304458.30294.31.
[34]
Alqahtani AR. Response to letter to the editor by Scheimann, Miller, and Glaze: Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi syndrome: a matched control study[J]. Surg Obes Relat Dis, 2017, 13(2): 367. DOI: 10.1016/j.soard.2016.10.015.
[1]
Vogels A, Van Den Ende J, Keymolen K, et al. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders[J]. Eur J Hum Genet, 2004, 12(3): 238-240. DOI: 10.1038/sj.ejhg.5201135.
[2]
Lionti T, Reid SM, White SM, et al. A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics[J]. Am J Med Genet A, 2015, 167A(2): 371-378. DOI: 10.1002/ajmg.a.36845.
[3]
Bar C, Diene G, Molinas C, et al. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome[J]. Orphanet J Rare Dis, 2017, 12(1): 118. DOI: 10.1186/s13023-017-0673-6.
[4]
中华医学会儿科学分会内分泌遗传代谢学组，《中华儿科杂志》编辑委员会. 中国Prader-Willi综合征诊治专家共识(2015)[J]. 中华儿科杂志，2015, 53(6)：419-424. DOI: 10.3760/cma.j.issn.0578-1310.2015.06.005.
[5]
Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome[J]. Genet Med, 2012, 14(1): 10-26. DOI: 10.1038/gim.0b013e31822bead0.
[6]
Wang P, Zhou W, Yuan W, Huang L, et al. Prader-Willi syndrome in neonates: twenty cases and review of the literature in Southern China[J]. BMC Pediatr, 2016, 9(16)：124. DOI: 10.1186/s12887-016-0662-2.
[7]
李海霞，刘克战. Prader-Willi综合征11例新生儿临床诊治及随访分析[J]．中华新生儿科杂志，2018, 33(4): 283-286. DOI: 10.3760/cma.j.cn101070-20191111-01120.
[8]
Bar C, Diene G, Molinas C, Bieth E, et al. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome[J]. Orphanet J Rare Dis, 2017, 12(1): 118. DOI：10.1186/s13023-017-0673-6.
[9]
高铭，任向芳，雷娜，等．综合优质护理干预在Prader-Willi综合征新生儿喂养中的应用[J]．中国医刊，2020, 55(12): 1384-1386. DOI: 10.3969/j.issn.1008-1070.2020.12.035.
[10]
叶芳，李文豪，邵洁，等．Prader-Willi综合征患儿的护理[J]．中国实用护理杂志，2014, 30(22): 35-36. DOI: 10.3760/cma.j.issn.1672-7088.2014.22.011.
[11]
Bacheré N, Diene G, Delagnes V, et al. Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants[J]. Horm Res, 2008, 69(1): 45-52. DOI: 10.1159/000111795.
[12]
Butler MG, Butler RI, Meaney FJ. The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome[J]. Int J Obes, 1988, 12(5): 417-422.
[13]
Driscoll DJ, Waters MF, Williams CA, et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes[J]. Genomics, 1992, 13(4): 917-924. DOI: 10.1016/0888-7543(92)90001-9.
[14]
Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria[J]. Pediatrics, 1993, 91(2): 398-402.
[15]
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. DOI: 10.1007/s40618-015-0312-9.
[16]
Yang L, Zhou Q, Ma B, et al. Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients[J]. Orphanet J Rare Dis, 2020, 15(1): 24. DOI: 10.1186/s13023-020-1306-z.
[17]
Singh P, Mahmoud R, Gold JA, et al. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome[J]. J Med Genet, 2018, 55(9): 594-598. DOI: 10.1136/jmedgenet-2017-105118.
[18]
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. DOI: 10.1159/000313377.
[19]
Butler MG, Manzardo AM, Heinemann J, et al. Causes of death in Prader-Willi syndrome: Prader-Willi syndrome Association (USA) 40-year mortality survey[J]. Genet Med, 2017, 19(6): 635-642. DOI: 10.1038/gim.2016.178.
[20]
Pacoricona Alfaro DL, Lemoine P, Ehlinger V, et al. Causes of death in Prader-Willi syndrome: lessons from 11 years′ experience of a national reference center[J]. Orphanet J Rare Dis, 2019, 14(1): 238. DOI: 10.1186/s13023-019-1214-2.
[21]
Crinò A, Fintini D, Bocchini S, et al. Obesity management in Prader-Willi syndrome: current perspectives[J]. Diabetes Metab Syndr Obes, 2018, 11: 579-593. DOI: 10.2147/DMSO.S141352.
[22]
Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome[J]. Am J Med Genet A, 2011, 155A(5): 1040-1049. DOI: 10.1002/ajmg.a.33951.
[23]
Committee on Genetics, McCandless SE. Clinical report-health supervision for children with Prader-Willi syndrome[J]. Pediatrics, 2011, 127(1): 195-204. DOI: 10.1542/peds.2010-2820.
[24]
Fintini D, Grugni G, Bocchini S, et al. Disorders of glucose metabolism in Prader-Willi syndrome: results of a multicenter Italian cohort study[J]. Nutr Metab Cardiovasc Dis, 2016, 26(9): 842-847. DOI: 10.1016/j.numecd.2016.05.010.
[25]
Hedgeman E, Ulrichsen SP, Carter S, et al. Long-term health outcomes in patients with Prader-Willi Syndrome: a nationwide cohort study in Denmark[J]. Int J Obes (Lond), 2017, 41(10): 1531-1538. DOI: 10.1038/ijo.2017.139.
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