ACRP  >> Vol. 1 No. 4 (November 2013)

    儿童Prader-Willi综合征合并扩张性心肌病一例
    A Case of Prader-Willi Syndrome with Dilated Cardiomyopathy

  • 全文下载: PDF(172KB) HTML   XML   PP.57-59   DOI: 10.12677/ACRP.2013.14015  
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作者:  

刘 栋,赵映敏:靖江市人民医院儿科

关键词:
Prader-Willi综合征基因组印记基因缺失生长激素扩张性心肌病Prader-Willi Syndrome; Genomic Imprinting; Gene Deletion; Growth Hormone; Dilated Cardiomyopathy

摘要:

Prader-Willi综合征是由于15号染色体长臂特异区基因缺失或母源二倍体所致,其共同的临床表现为新生儿期肌张力低下,儿童期肥胖,智力低下,青春期无性发育,身材矮小。本文报道儿童Prader-Willi 综合征合并扩张性心肌病一例,并探讨Prader-Willi综合征的临床表现及遗传学特征、治疗方案,及与扩张性心肌病之间的关联。

 Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal long arm of chromosome 15 or by maternal disomy in the proximal long arm of chromosome 15. Commonly associated characteristics of this disorder include diminished fetal activity, hypotonia, obesity, mental retardation, short stature, hypogonadism, and small hands and feet. We report a case of Prader-Willi syndrome with dilated cardiomyopathy, and review its Clinical manifestations, genetic characteristics and treatment method, then analysis the relation with the di- lated cardiomyopathy.

文章引用:
刘栋, 赵映敏. 儿童Prader-Willi综合征合并扩张性心肌病一例[J]. 亚洲儿科病例研究, 2013, 1(4): 57-59. http://dx.doi.org/10.12677/ACRP.2013.14015

参考文献

[1] M. Gunay-Aygun, S. Schwartz, S. Heeer, et al. The changing purpose of Prader-Willi syndrome, cilinical diagnostic criteria and propose revised criteria. Pediatrics, 2001, 108(5): E92.
[2] R. D. Nicholls, S. Saitoh and B. Horsthemke. Imprinting in Prader-Willi and Angelman syndrome. Trends in Genetics, 1998, 14(5): 194-200.
[3] V. A. Holm, S. B. Cassidy, M. G. Butler, et al. Prader-Willi syn- drome: Consensus diagnostic. Pediatrics, 1993, 91(2): 398-402.
[4] H. Soejima, J. Wagstaff. Imprinting centers, chromatin sturcture, and disease. Journal of Cellular Biochemistry, 2005, 95(2): 226- 233.
[5] L. Keder, M. G. Bulter. The genetics of Prader-Willi syndrome: An explanation for the rest of US. 2000. http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm.
[6] R. Bassali, W. H. Hoffman, H. Chen, et al. Hyperlipidemia, insu-lin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13). American Journal of Medical Genetics, 1997, 71(3): 267-70.
[7] C. Höybye, A. Hilding, C. Marcus, et al. Growth hormone in- duced lipolysis during short- and long-term administration in adult Prader-Willi patients. Growth Hormone & IGF Research, 2005, 15(6): 411-415.
[8] A. L. Carrel, S. E. Myers, B. Y. Whitman, et al. Growth hor- mone mproves body compostion, fat utilization, physical strenth and agility, and growth inPrader-Willi syndrome: A controlled study. Journal of Pediatrics, 1999, 134(2): 215-221.
[9] S. E. Myers, A. L. Carrel, B. Y. Whitman, et al. Suatained bene- fit after 2 years of growth hormone on body compostion, fat utilization, physical strength and agility, and frowth in Prader- Willi syndrome. Journal of Pediatrics, 2000, 137(1): 42-49.
[10] A. L. Carrel, S. E. Myers, B. Y. Whitman, et al. Sustained bene- fits of growth hormone on body compostion, fat utlization, phy- sical strength and agility, and growth in Prader-Willi syndrome are dose-dependent. Journal of Pediatric Endocrinology & Me- tabolism, 2001, 14(8): 1097-1105.
[11] B. L. Silverman, J. R. Friedlander. Is growth hormone good for the heart? Journal of Pediatrics, 1997, 131: S70-S74.
[12] A. Colao, P. Marzullo, C. Di Somma, et al. Growth hormone and the heart. Clinical Endocrinology, 2001, 54(2): 137-154.
[13] A. Giustina, E. Boni, G. Romanelli, et al. Cardiopulmonary per- formance during exercise in acromegaly, and the effects of acute suppression of growth hormone hypersecretion with octreotide. American Journal of Cardiology, 1995, 75(15): 1042-1047.
[14] M. E. Otto, M. Belohlavek, A. Romero-Corral, et al. Compari- son of cardiac structural and functional changes in obese other- wise healthy adults with versus without obstructive sleep apnea. American Journal of Cardiology, 2007, 99(9): 1298-1302.