目的 提高对先天性腹主动脉瘤（AAA）的认识。 方法 报道2012年11月1日先天性AAA 1 例，回顾国内外报道的24 例先天性AAA的临床资料。 结果 患儿男，2岁，以肉眼血尿起病，伴高血压、蛋白尿和反复血小板降低；多层螺旋CT血管成像（MSCTA）见AAA伴左肾动脉狭窄；彩色多普勒超声见AAA累及双侧髂总动脉伴动脉壁间血栓及钙化，左肾萎缩；保守治疗7个月后猝死，临终前头颅CT见脑梗死。回顾分析24例先天性AAA，包括肾下型AAA 15 例，肾上型AAA 5例，胸腹部AAA 2例，未具体指明类型2例；产前诊断6例，出生后诊断18例（其中包括新生儿5例和1个月～3岁婴幼儿8例）；以腹部搏动性包块起病8 例，呕吐4 例，呼吸困难2例，腰部疼痛1例，因其他疾病就诊3例；采用血管超声21例，MSCTA 16例，磁共振血管造影9例；13例肾下型AAA接受手术治疗；死于AAA破裂5例，死于心力衰竭2例。 结论 先天性AAA以肾下型为主，多为婴幼儿，常表现为腹部肿块，确诊该病首选MSCTA，主张行早期个体化手术。
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.