目的 提高對先天性腹主動脈瘤（AAA）的認識。 方法 報道2012年11月1日先天性AAA 1 例，回顧國內外報道的24 例先天性AAA的臨床資料。 結果 患兒男，2歲，以肉眼血尿起病，伴高血壓、蛋白尿和反復血小板降低；多層螺旋CT血管成像（MSCTA）見AAA伴左腎動脈狹窄；彩色多普勒超聲見AAA累及雙側髂總動脈伴動脈壁間血栓及鈣化，左腎萎縮；保守治療7個月后猝死，臨終前頭顱CT見腦梗死。回顧分析24例先天性AAA，包括腎下型AAA 15 例，腎上型AAA 5例，胸腹部AAA 2例，未具體指明類型2例；產前診斷6例，出生后診斷18例（其中包括新生兒5例和1個月～3歲嬰幼兒8例）；以腹部搏動性包塊起病8 例，嘔吐4 例，呼吸困難2例，腰部疼痛1例，因其他疾病就診3例；采用血管超聲21例，MSCTA 16例，磁共振血管造影9例；13例腎下型AAA接受手術治療；死于AAA破裂5例，死于心力衰竭2例。 結論 先天性AAA以腎下型為主，多為嬰幼兒，常表現為腹部腫塊，確診該病首選MSCTA，主張行早期個體化手術。
Pain, as a complex physiological and pathological phenomenon, has always been a hot topic in medical research in terms of its mechanism of occurrence and influencing factors. Vitamin D, as a fat soluble vitamin, has been shown to be closely associated with pain in recent years, in addition to its classic role in regulating calcium and phosphorus metabolism. The polymorphism of the vitamin D receptor (VDR) gene can lead to changes in the structure and function of VDR, thereby affecting vitamin D levels. Meanwhile, VDR gene polymorphism can indirectly or directly participate in the occurrence and development of pain. This article aims to review the research on the relationship between vitamin D and its receptor gene polymorphism and pain, and provide reference for potential therapeutic targets and personalized intervention strategies for pain.