临床儿科杂志
臨床兒科雜誌
림상인과잡지
2014年
4期
388-391
,共4页
沈玉洁(综述)%陈颖伟(审校)
瀋玉潔(綜述)%陳穎偉(審校)
침옥길(종술)%진영위(심교)
先天性肛门直肠畸形%遗传因素%信号途径
先天性肛門直腸畸形%遺傳因素%信號途徑
선천성항문직장기형%유전인소%신호도경
non-isolated anorectal malformation%genetics%signaling pathways
先天性肛门直肠畸形（ARM）发病率占消化道畸形首位，分为孤立性ARM和合并其他畸形的非孤立性ARM。目前研究表明，ARM是多基因遗传疾病，遗传因素在疾病发生发展中起到重要作用。文章就非孤立性ARM相关的遗传因素及潜在的信号转导途径作一综述。
先天性肛門直腸畸形（ARM）髮病率佔消化道畸形首位，分為孤立性ARM和閤併其他畸形的非孤立性ARM。目前研究錶明，ARM是多基因遺傳疾病，遺傳因素在疾病髮生髮展中起到重要作用。文章就非孤立性ARM相關的遺傳因素及潛在的信號轉導途徑作一綜述。
선천성항문직장기형（ARM）발병솔점소화도기형수위，분위고립성ARM화합병기타기형적비고립성ARM。목전연구표명，ARM시다기인유전질병，유전인소재질병발생발전중기도중요작용。문장취비고립성ARM상관적유전인소급잠재적신호전도도경작일종술。
Anorectal malformations (ARM) are the most common congenital gastrointestinal malformation and can be classified in-to isolated and non-isolated ARM. Studies so far suggest that ARM represents a multifactorial disorder in which genetic alterations plays an important role in the genesis and development. In this review, we examine hereditary factors and the underlying signaling pathways involved in non-isolated ARM to provide a genetic basis for further study.
