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Prader-Willi综合征继发糖尿病一例

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摘要 患者,男,11岁,因“发育迟缓11年,伴烦渴、多饮、多尿1月余”入院。患者入院前1个月无明显诱因出现口干、口渴、多饮,遂至山东第一医科大学第一附属医院就诊。入院后急查随机血糖17.43mmol/L,尿糖(++++),尿酮体(+++),门诊以“糖尿病酮症酸中毒”收入内分泌科。患者出生时为顺产,无糖尿病家族史,父母身体健康,否认家族遗传病史。出生时发现隐睾、反应迟缓、哭声微弱,给予“气相色谱-质谱分析”筛査和“基因检测”未见异常。
出处 《临床内科杂志》 CAS 2019年第9期600-601,共2页 Journal of Clinical Internal Medicine
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  • 1Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuehs, Kryptorchismus und Oligophrenia nach myatonieartigem Zustand im Neugeborenenaher [ J]. Schweiz Med Wochenschr, 1956, 86: 1260-1261.
  • 2McCandless SE; Committee on Genetics. Clinical report- health supervision for children with Prader-Willi syndrome [ J ]. Pediatrics, 2011, 127 ( 1 ) :195-204.
  • 3Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome[J]. Genet Med, 2012, 14 (1): 10-26.
  • 4Buffer MG. Pmder-Willi syndrome: obesity due to genomic imprinting [J]. Curr Genomics, 2011, 12 (3): 204-215.
  • 5Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader-Willi syndrome [ J]. J Clin Endocfinol Metab, 2008, 93 (11) : 4183-4197.
  • 6Diene G, Mimoun E, Feigerlova E, et al. Endocrine dimmers in children with Pratter-Willi syndrome- data from 142 ehiidrert of the French database [J]. Horm Res Paediatr, 2010, 74 (2) : 121- 128.
  • 7Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome [ J ]. Int J Pediatr Endocrinol, 2013, 2013 (1): 14.
  • 8Lu W, Qi Y, Cui B, et al. Clinical and genetic features of Prader- Willi syndrome in China [ J]. Eur J Pediatr, 2014, 173 ( 1 ) : 81 - 86.
  • 9Ma Y, Wu T, Liu Y, ct al. Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy [J]. J Pediatr Endocrinol Metal), 2012, 25 (11-12): 1103- 1109.
  • 10Ehara H, Ohno K, Takeshita K. Frequency of the Prader-WiUi syndrome in the San-in district, Japan [J]. Brain Dev, 1995, 17 (5) : 324-326.

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