出生缺陷ceot1 sang1 kyut3 ham6英文birth defect / congenital disorder),又叫做先天性疾病sin1 tin1 sing3 zat6 beng6,係一大類喺出世嗰時顯現嘅疾病,原因可能好多種。出生缺陷有可能導致身體,智力,或者發育嘅障礙。嚴重程度由輕微到嚴重都唔定。出生缺陷分做兩種主要類型:結構性障礙,其中身體器官嘅形狀出現問題,功能性障礙存在身體器官如何運作問題。功能障礙包括代謝同退化性質嘅障礙。一啲出生缺陷包括結構同功能障礙。[3][3][7][4][4][4]

Birth defect
同義詞Congenital disorder, congenital disease, congenital deformity, congenital anomaly[1]
A boy with Down syndrome, one of the most common birth defects[2]
病徵Physical disability, intellectual disability, developmental disability[3]
通常發病Present at birth[3]
類型Structural, functional[4]
起因Genetics, exposure to certain medications or chemicals, certain infections during pregnancy[5]
風險因數Not enough folic acid, drinking alcohol or smoking, poorly controlled diabetes, mother over the age of 35[6][7]
Therapy, medication, surgery, assistive technology[8]
盛行率3% of newborns (US)[2]
死亡數628,000 (2015)[9]
分類同拎
醫學專科Medical genetics, pediatrics
DiseasesDB28811

出生缺陷嘅原因有基因或者染色體疾病,接觸過某啲藥物或者化學品,或者佗仔期間嘅某啲感染。成因有可能包括葉酸不足,佗仔嗰陣攝取酒精或者尼古丁,控制不善嘅糖尿病,或者係阿媽老得滯(35歲以上)呀噉。有時同一時間有多種因素(引致出生缺陷)。有啲出生缺陷喺出世嗰時已經顯現,亦都可能要檢查先診斷到。個 BB 出世之前,可以通過唔同嘅產前測試檢測嚟發現到唔同嘅缺陷。

治療方法要睇喺邊種缺陷類型。可以包括治療,藥物,手術,或輔助技術。截至2015年,出生缺陷嘅受影響人數大約9600萬人。[8][8][10] 喺美國,大約3%嘅初生 BB 有出生缺陷。淨係2015年就已經有大約62萬8千人因此死亡,而1990年有75萬1千人。死亡人數最多嘅類型有:第一位係先天性心臟病,人數有30萬3千;第二位係神經管缺陷,人數有6萬5千。[2][11][9][9]

分類

編輯

用嚟描述先天條件嘅大部分語言早於基因組映射,結構條件通常被視為與其他先天條例分開。 好多代謝條件宜家已經知道有微妙嘅結構表達,而且結構條件通常有基因聯繫。 儘管如此,先天的疾病通常由受影響嘅主要器官分類。

主要結構

編輯

有幾個術語用嚟描述先天異常情況。 (其中一些也用來描述非先天的情況,並且多個術語用於描述同一個情況。)

術語

編輯

睇埋

編輯
  1. Ruth A. Hannon (2010). Porth pathophysiology : concepts of altered health states (第1st Canadian版). Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 128. ISBN 978-1-60547-781-7. 原先內容歸檔喺2017-08-20. 喺2017-08-30搵到.
  2. 2.0 2.1 2.2 "Birth Defects". Dec 15, 2015. 原先內容歸檔喺18 June 2018. 喺17 Jan 2016搵到. 引用錯誤 Invalid <ref> tag; name "CDC2015Epi" defined multiple times with different content
  3. 3.0 3.1 3.2 3.3 "Birth Defects: Condition Information". www.nichd.nih.gov. 原先內容歸檔喺22 December 2017. 喺8 December 2017搵到. 引用錯誤 Invalid <ref> tag; name "NIH2017Def" defined multiple times with different content
  4. 4.0 4.1 4.2 4.3 "What are the types of birth defects?". www.nichd.nih.gov. 原先內容歸檔喺22 December 2017. 喺8 December 2017搵到. 引用錯誤 Invalid <ref> tag; name "NIH2017What" defined multiple times with different content
  5. "What causes birth defects?". www.nichd.nih.gov. 原先內容歸檔喺17 December 2017. 喺8 December 2017搵到.
  6. "How many people are affected by/at risk for birth defects?". www.nichd.nih.gov. 原先內容歸檔喺17 December 2017. 喺8 December 2017搵到.
  7. 7.0 7.1 "Facts Birth Defects". Centers for Disease Control and Prevention (美國英文). 7 September 2017. 原先內容歸檔喺15 June 2018. 喺8 December 2017搵到. 引用錯誤 Invalid <ref> tag; name "CDC2017Fact" defined multiple times with different content
  8. 8.0 8.1 8.2 "What are the treatments for birth defects?". www.nichd.nih.gov. 原先內容歸檔喺20 December 2017. 喺8 December 2017搵到. 引用錯誤 Invalid <ref> tag; name "NIH2017Tx" defined multiple times with different content
  9. 9.0 9.1 9.2 GBD 2015 Mortality and Causes of Death, Collaborators. (8 October 2016). "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. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281. {{cite journal}}: |first1= has generic name (help) 引用錯誤 Invalid <ref> tag; name "GBD2015De" defined multiple times with different content
  10. GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "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. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282. {{cite journal}}: |first= has generic name (help)
  11. GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). "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. 385 (9963): 117–71. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442. {{cite journal}}: |first= has generic name (help)