建立日期 14160
主題： 認識小胖威利症候群
小胖威利症候群(Prader-Willi Syndrome；PWS)盛行率為一萬到一萬五千分之一，男女比例相同，也沒有種族上的差異[1]。致病原因為第十五對染色體上的一群基因(PWS imprinting region)發生缺失，70%的病患其染色體缺失來自於父源，25%則是兩條第十五對染色體皆來自母方，另有5%是父源第十五對染色體異常甲基化所導致[2]。病人在嬰兒期會出現肌肉張力低下、甚至需經鼻胃管餵食、發育遲緩等。到了幼兒期，由於血液中飢餓荷爾蒙（ghrelin）濃度高於正常人，導致旺盛的食慾，若二歲之前飲食沒有受到監控，就會衍生肥胖及早發性糖尿病。有關下視丘功能低下所導致的症狀則包括體溫調節失控、對疼痛耐受度高、睡眠呼吸終止、生長激素不足、腎上腺功能不足、性腺及甲狀腺功能低下等。行為異常方面，則包括焦慮及強迫症，尤其對食物缺乏有極度不安全感[2]。此外，由於生長荷爾蒙及性腺功能不足，容易導致骨質疏鬆，因此美國及歐洲國家都已核准注射生長激素[2]。至於補充性荷爾蒙以誘發性發育的時機則因人而異[3]，經過適當的荷爾蒙治療後，女性患者可以產下後代[4]，然而至今並無男性患者可以具有生育能力[5]。最新的治療方法包括給予oxytocin以矯正強迫症行為[6]、補充輔酶Q10以增加能量的消耗[7]、利用藥物減少睡眠時間[7]、胃間隔手術以控制體重[8]、注射beloranib以抑制食慾[9]。然而，這些治療的臨床試驗結果目前為止仍受到爭議。
References:
1. Cassidy, S.B., E. Dykens, and C.A. Williams, Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet, 2000. 97(2): p. 136-46.
2. Irizarry, K.A., et al., Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy. Adv Pediatr, 2016. 63(1): p. 47-77.
3. Goldstone, A.P., et al., Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab, 2008. 93(11): p. 4183-97.
4. Eldar-Geva, T., et al., Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome. Am J Med Genet A, 2013. 161a(12): p. 3030-4.
5. Emerick, J.E. and K.S. Vogt, Endocrine manifestations and management of Prader-Willi syndrome. Int J Pediatr Endocrinol, 2013. 2013(1): p. 14.
6. Einfeld, S.L., et al., A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome. Am J Med Genet A, 2014. 164a(9): p. 2232-9.
7. Miller, J.L., et al., Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. Am J Med Genet A, 2011. 155a(3): p. 569-73.
8. Coupaye, M., C. Poitou, and M. Tauber, Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi Syndrome: a matched control study. Surg Obes Relat Dis, 2016. 12(1): p. 213-4.
9. =Shoemaker AH, P.J., Abuzzahab J, , Randomized, double-blind, placebo controlled 4 week proof of concept trial of beloranib resulted in rapid and significant weight loss in patients with hypothalamic injury associated obesity. San Diego (CA): Endocrine Society, 2015.
References:
1. Cassidy, S.B., E. Dykens, and C.A. Williams, Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet, 2000. 97(2): p. 136-46.
2. Irizarry, K.A., et al., Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy. Adv Pediatr, 2016. 63(1): p. 47-77.
3. Goldstone, A.P., et al., Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab, 2008. 93(11): p. 4183-97.
4. Eldar-Geva, T., et al., Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome. Am J Med Genet A, 2013. 161a(12): p. 3030-4.
5. Emerick, J.E. and K.S. Vogt, Endocrine manifestations and management of Prader-Willi syndrome. Int J Pediatr Endocrinol, 2013. 2013(1): p. 14.
6. Einfeld, S.L., et al., A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome. Am J Med Genet A, 2014. 164a(9): p. 2232-9.
7. Miller, J.L., et al., Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. Am J Med Genet A, 2011. 155a(3): p. 569-73.
8. Coupaye, M., C. Poitou, and M. Tauber, Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi Syndrome: a matched control study. Surg Obes Relat Dis, 2016. 12(1): p. 213-4.
9. =Shoemaker AH, P.J., Abuzzahab J, , Randomized, double-blind, placebo controlled 4 week proof of concept trial of beloranib resulted in rapid and significant weight loss in patients with hypothalamic injury associated obesity. San Diego (CA): Endocrine Society, 2015.
