脊柱裂

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脊柱裂
Spina-bifida.jpg
嬰兒脊柱裂示意圖
醫學專科 小兒科神經外科
症状 背部局部生毛、凹窩、背部暗斑、下背腫脹[1]
併發症 走路困難、膀胱即腸道控制障礙、腦水腫骨髓栓系综合征乳膠過敏英语latex allergy[2]
肇因 遺傳或環境因素[3]
風險因子英语Risk factor 妊娠期間缺乏叶酸、某些抗癲癇藥、肥胖,糖尿病控制不佳[4][3]
診斷方法 羊膜穿刺術醫學影像[5]
預防 補充葉酸[3]
治療 手術切除[6]
盛行率 5%(隱性脊柱裂),每1000名新生兒約0.1–5(其他型)[7][8]

脊柱裂Spina bifida)為一種神經管發育缺陷英语neural tube defect[9]。乃描述一種脊椎骨英语vertebrae及神經管未順利閉合先天性障碍。主要可分為三類:隱性脊柱裂(spina bifida occulta)、脊髓膜膨出(meningocele),以及脊髓脊髓膜膨出(myelomeningocele)等三類[1]。最常發生的位置發生於下部,但也有少數病例發生於頸部及中背部[10]。隱性脊柱裂通常只有輕微症狀,甚至沒有症狀[5]。症狀包含椎間局部有毛、凹窩、暗斑,或腫脹。脊髓膜膨出造成的問題不大,椎間可能會出現含液體的囊狀構造[1]。脊髓脊髓膜膨出又稱為開放性脊柱裂(open spina bifida),為最嚴重的一型。常見症狀包含走路障礙,膀胱或腸道控制、腦水腫骨髓栓系綜合徵,以及乳膠過敏。認知障礙則較為罕見[2]

造成原因可能包含遺傳因素及環境因素[3]。若父母其中有一人,或已有一子罹有脊柱裂,則有4%的機率另一子也會得到該疾病[4]妊娠期間攝取葉酸量不足可能在造成脊柱裂方面扮演重要角色[3]。其他風險因子還包含母親服用某些抗癲癇藥物、肥胖,以及糖尿病控制不佳等等[4]。分娩前後都有機會可以診斷該疾病。出生前的篩檢包含羊膜穿刺及超音波,若羊水中含有高含量的α-胎兒蛋白 (AFP),則脊柱裂的機會越高。超音波檢測也有機會發現脊柱裂。出生後可用影像學來確認診斷[5]

大多數脊柱裂可藉由母體妊娠期間充分攝取葉酸來避免[3],研究證實在麵粉中添加葉酸對大多數婦女有效[11]。開放性脊柱裂則能在出生後動手術來治療。若發生腦水腫則建議進行引流,骨髓栓系綜合徵則可藉由手術修補。若產生動作障礙可以訂製拐杖及輪椅等輔具改善生活品質,另外也可能會需要导尿[6]

約5%的人有隱性脊柱裂[8],其他型則隨區域而異,占出生率萬分之一到千分之五不等[12]已開發國家平均約為萬分之四[7],跟美國差不多[4][13]。印度則約每1000名出生孩童中占1.9[14]。族群也可能有所影響,如高加索人的風險較高,但這可能也與環境因子相關[15]

Video explanation


參見[编辑]

参考资料[编辑]

  1. ^ 1.0 1.1 1.2 Spina Bifida: Condition Information. 2012-11-30. 
  2. ^ 2.0 2.1 Are there disorders or conditions associated with spina bifida?. 2012-11-30 [8 May 2015]. 
  3. ^ 3.0 3.1 3.2 3.3 3.4 3.5 What causes spina bifida?. 2012-11-30 [8 May 2015]. 
  4. ^ 4.0 4.1 4.2 4.3 How many people are affected by or at risk for spina bifida?. 2012-11-30 [8 May 2015]. 
  5. ^ 5.0 5.1 5.2 How do health care providers diagnose spina bifida?. 2012-11-30 [8 May 2015]. 
  6. ^ 6.0 6.1 What are the treatments for spina bifida & related conditions?. 2012-11-30 [8 May 2015]. 
  7. ^ 7.0 7.1 Kondo, A; Kamihira, O; Ozawa, H. Neural tube defects: prevalence, etiology and prevention.. International Journal of Urology. January 2009, 16 (1): 49–57. PMID 19120526. doi:10.1111/j.1442-2042.2008.02163.x. 
  8. ^ 8.0 8.1 Sandler, AD. Children with spina bifida: key clinical issues.. Pediatric Clinics of North America. August 2010, 57 (4): 879–92. PMID 20883878. doi:10.1016/j.pcl.2010.07.009. 
  9. ^ Neural Tube Defects (NTDs): Overview. 2012-11-30 [8 May 2015]. 
  10. ^ Deming, Laura. Pediatric life care planning and case management 2nd. Boca Raton, FL: CRC Press. 2011: 392. ISBN 9781439803585. 
  11. ^ Castillo-Lancellotti, C; Tur, JA; Uauy, R. Impact of folic acid fortification of flour on neural tube defects: a systematic review.. Public Health Nutrition. May 2013, 16 (5): 901–11. PMID 22850218. doi:10.1017/s1368980012003576. 
  12. ^ M. Memet Ö̈zek. Spina bifida : management and outcome. Milan: Springer. 2008: 58. ISBN 9788847006508. 
  13. ^ Canfield, MA; Honein, MA; Yuskiv, N; Xing, J; Mai, CT; Collins, JS; Devine, O; Petrini, J; Ramadhani, TA; Hobbs, CA; Kirby, RS. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001.. Birth defects research. Part A, Clinical and molecular teratology. November 2006, 76 (11): 747–56. PMID 17051527. doi:10.1002/bdra.20294. 
  14. ^ Bhide, P; Sagoo, GS; Moorthie, S; Burton, H; Kar, A. Systematic review of birth prevalence of neural tube defects in India.. Birth Defects Research. Part A, Clinical and Molecular Teratology. July 2013, 97 (7): 437–43. PMID 23873811. doi:10.1002/bdra.23153. 
  15. ^ Puri, Prem. Newborn surgery 3. London: Hodder Arnold. 2011: 811. ISBN 9781444149494. 

外部連結[编辑]

分類
外部資源


Template:Congenital malformations and deformations of nervous system Template:Congenital malformations and deformations of musculoskeletal system

Category:Dermal and subcutaneous growths英语Category:Dermal and subcutaneous growths Category:Congenital disorders of nervous system英语Category:Congenital disorders of nervous system Category:Congenital disorders of musculoskeletal system英语Category:Congenital disorders of musculoskeletal system Category:Articles containing video clips英语Category:Articles containing video clips