先天性障碍

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  1. 重定向 T:Infobox medical condition

先天性障碍(congenital disorder)又称出生缺陷[1](birth defect)、先天缺陷[2](congenital defect)[3],视情况有时称先天性疾病先天畸形,是指发育中的胎儿因为遗传性疾病或发育环境等因素导致某部位特征、结构、功能的异常,导致在婴儿出生时即有的病症[4],包括了身体英语Physical disability智能以及发展上的障碍[4]。障碍程度可能轻微,也可能严重[5]。先天性障碍可以分为二类:结构性缺陷是指身体器官或部位在外形或是结构上的缺陷,而功能性缺陷是指身体部位在功能上的缺陷[6]。功能性缺陷包括代谢疾病退行性疾病[6]。有些先天性障碍则同时包括了结构性缺陷以及功能性缺陷二者[6]

先天性障碍可能是因为遗传疾病染色体畸变,或是怀孕时暴露在特定化学物质、服用特定药物或是怀孕时感染英语Vertically transmitted infection[7]。风险因子包括叶酸缺乏症、怀孕时饮酒或是吸烟、妊娠糖尿病控制不当、或是孕妇年龄超过35岁[8][5]。许多先天性障碍可能是因为多种原因造成[5]。先天性障碍可能是婴儿出生时即可看出的,也有些是透过新生儿筛检英语Newborn screening得知[9]。许多的先天性障碍可以在怀孕时在产前诊断检查出来[9]

根据动物实验,发育中的胎儿所得到的营养取决于父母的进食,也有可能对胎儿出生以后长期影响到他的生活型态[10]。也动物实验也指出,父母的思维生活作息也会影响到胎儿的发育过程,由实验可知,父亲如果整天酗、少吃蔬果类的食物吸烟、吸毒品等不良行为,更容易让胎儿造成基因突变而导致先天性障碍[11][12][13][14]

先天性障碍的处理方式因种类而有所不同[15],包括有治疗、药物、手术以及辅助技术[15]。在2015年有9600万人有先天性障碍[16] 。在美国有3%的新生儿有先天性障碍[17] ,在1990年时全世界因先天性障碍死亡的人数有75.1万人,到2015年降到62.8万人[18][19]。主要的死因有先天性心脏病(30.3万人)及神经管缺陷英语Neural tube defect(6.5万人)[19]

部分先天性障碍的举例[编辑]

File:Chinese circus performer with craniosynostosis, 1927.jpg
患有颅缝早闭的中国马戏团演员,1927 年


数据与分布图[编辑]

File:Congenital anomalies world map - DALY - WHO2004.svg
2004年每10万人因为先天性异常而导致的失能调整生命年[25]
  无资料
  少于160
  160-240
  240-320
  320-400
  400-480
  480-560
  560-640
  640-720
  720-800
  800-900
  900-950
  多于950

从1990年至2013年期间数据统计显示:每年因先天性疾病导致死亡者从751,000人降至632,000人[18],其中先天性心脏疾病导致死亡的人数最多(323000人),其次是神经管异常(69000人)[18]

参考文献[编辑]

  1. 存档副本. [2024-02-06]. (原始内容存档于2024-02-06). 
  2. https://terms.naer.edu.tw/search/?csrfmiddlewaretoken=t4rEKuzQntvvh1eIIgmA2g6tIrjQQjVesPR5DNVQNslfXUzTkqh9sK2DiJ8ZNW4T&match_type=phrase&query_op=&query_field=title&query_term=congenital+defect
  3. Ruth A. Hannon. Porth pathophysiology : concepts of altered health states 1st Canadian ed. Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins. 2010: 128 [2015-07-04]. ISBN 9781605477817. (原始内容存档于2015-07-03). 
  4. 4.0 4.1 Birth Defects: Condition Information. www.nichd.nih.gov. [8 December 2017]. (原始内容存档于2017-12-22). 
  5. 5.0 5.1 5.2 Facts Birth Defects. Centers for Disease Control and Prevention. 7 September 2017 [8 December 2017]. (原始内容存档于2018-06-15) (en-us). 
  6. 6.0 6.1 6.2 What are the types of birth defects?. www.nichd.nih.gov. [8 December 2017]. (原始内容存档于2017-12-22). 
  7. What causes birth defects?. www.nichd.nih.gov. [8 December 2017]. (原始内容存档于2017-12-17). 
  8. How many people are affected by/at risk for birth defects?. www.nichd.nih.gov. [8 December 2017]. (原始内容存档于2017-12-17). 
  9. 9.0 9.1 How do health care providers diagnose birth defects?. www.nichd.nih.gov. [8 December 2017]. (原始内容存档于2017-12-22). 
  10. Gregory W. Rutecki. Pre-Prenatal Care: A Primary Care Primer on the Future. ConsultantLive.com. 2010 [25 September 2010]. (原始内容存档于2012-11-09). 
  11. Abel, E. L. Paternal contribution to fetal alcohol syndrome. Addiction Biology. 2004, 9 (2): 127–133. PMID 15223537. doi:10.1080/13556210410001716980. 
  12. De Santis, Marco; Cesari, Elena; Cavaliere, Annafranca; Ligato, Maria Serena; Nobili, Elena; Visconti, Daniela; Caruso, Alessandro. Paternal exposure and counselling: Experience of a Teratology Information Service. Reproductive Toxicology. September 2008, 26 (1): 42–46. PMID 18598753. doi:10.1016/j.reprotox.2008.06.003. 
  13. Sartorius, G. A.; Nieschlag, E. Paternal age and reproduction. Human Reproduction Update. 20 August 2009, 16 (1): 65–79. PMID 19696093. doi:10.1093/humupd/dmp027. 
  14. Anderson, Diana; Schmid, ThomasE; Baumgartner, Adolf. Male-mediated developmental toxicity. Asian Journal of Andrology. 2014, 16 (1): 81. PMID 24369136. doi:10.4103/1008-682X.122342. 
  15. 15.0 15.1 What are the treatments for birth defects?. www.nichd.nih.gov. [8 December 2017]. (原始内容存档于2017-12-20). 
  16. GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015.. Lancet. 8 October 2016, 388 (10053): 1545–1602. PMC 5055577可免费查阅. PMID 27733282. doi:10.1016/S0140-6736(16)31678-6. 
  17. Birth Defects. Dec 15, 2015 [17 Jan 2016]. (原始内容存档于2018-06-18). 
  18. 18.0 18.1 18.2 GBD 2013 Mortality and Causes of Death, Collaborators. Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013.. Lancet. 17 December 2014, 385 (9963): 117–71. PMC 4340604可免费查阅. PMID 25530442. doi:10.1016/S0140-6736(14)61682-2. 
  19. 19.0 19.1 GBD 2015 Mortality and Causes of Death, Collaborators. Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015.. Lancet. 8 October 2016, 388 (10053): 1459–1544. PMC 5388903可免费查阅. PMID 27733281. doi:10.1016/s0140-6736(16)31012-1. 
  20. Jones K, Smith D (1975). "The fetal alcohol syndrome". Teratology 12 (1): 1–10. doi:10.1002/tera.1420120102. PMID 1162620.
  21. Clarren S, Alvord E, Sumi S, Streissguth A, Smith D (1978). "Brain malformations related to prenatal exposure to ethanol". J Pediatr 92 (1): 64–7. doi:10.1016/S0022-3476(78)80072-9. PMID 619080.
  22. Lancet. 1986 Nov 22;2(8517):1222. PMID 2877359
  23. Strömland K, Pinazo-Durán M (2002). "Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies". Alcohol Alcohol 37 (1): 2–8. doi:10.1093/alcalc/37.1.2. PMID 11825849.
  24. May, PA.; Gossage, JP. (2001). "Estimating the prevalence of fetal alcohol syndrome. A summary.". Alcohol Res Health 25 (3): 159–67. PMID 11810953.
  25. WHO Disease and injury country estimates. World Health Organization. 2009 [Nov 11, 2009]. (原始内容存档于2014-02-11). 

参见[编辑]

外部链接[编辑]