改良Duplay术和Duckett术在儿童中重度尿道下裂中的临床应用比较

目的 比较改良分期尿道板纵切卷管尿道成形术（改良Duplay术）和一期横形带蒂岛状包皮皮瓣尿道成形术（Duckett术）治疗儿童中重度尿道下裂的疗效。方法 收集81例中重度尿道下裂患儿的临床资料,根据术式不同分为改良Duplay术式组45例和Duckett术式组36例。比较2组的手术时间、出血量、住院费用、术后并发症和患儿家属对手术的满意度及治愈率。结果 与Duckett术式组比较,改良Duplay术式组的手术时间较短,尿道狭窄和尿道憩室的发生率较低（P均< 0.05）。2组的出血量、住院费用、尿瘘和龟头裂开的发生率和治愈率比较差异均无统计学意义（P均> 0.05）。Duckett术式组患儿家属对手术的满意度高于改良Duplay术式组患儿家属对一期手术的满意度（P < 0.05）,与改良Duplay术式组患儿家属对二期手术的满意度相近（P > 0.05）。结论 改良Duplay术治疗中重度尿道下裂手术时间短、尿道狭窄和尿道憩室的发生率低,其临床应用优于Duckett术。     

Prenatal exposure to di-n-butyl phthalate (DBP) differentially alters androgen cascade in undeformed versus hypospadiac male rat offspring

This study was to compare the alterations of androgen cascades in di-n-butyl phthalate (DBP)-exposed male offspring without hypospadias (undeformed) versus those with hypospadias. To induce hypospadias in male offspring, pregnant rats received DBP via oral gavage at a dose of 750 mg/kg BW/day during gestational days 14–18. The mRNA expression levels of genes downstream of the androgen signaling pathway, such as androgen receptor (AR) and Srd5a2, in testes of undeformed rat pups were similar to those in controls; in hypospadiac rat pups these levels were significantly lower than those of control pups. In contrast, both undeformed and hypospadiac rats had decreased serum testosterone levels, reduced mRNA expression of key enzymes in the androgen synthetic pathway in the testes, and ablated genes of developmental pathways, such as Shh, Bmp4, Fgf8, Fgf10 and Fgfr2, in the genital tubercle (GT) as compared to those in DBP-unexposed controls, albeit hypospadiac rats had a more severe decrement than those of undeformed rats. Although other possibilities cannot be excluded, our findings suggest that the relatively normal levels of testosterone-AR-Srd5a2 may contribute to the resistance to DBP toxicity in undeformed rats. In conclusion, our results showed a potential correlation between decreased testosterone levels, reduced mRNA expression of AR and Srd5a2 and the occurrence of hypospadias in male rat offspring prenatally exposed to DBP.     

尿道下裂的基因特点及其研究进展

尿道下裂是男性新生儿中常见的先天性泌尿系统畸形。主要是由阴茎和尿道发育异常引起的，是一种多因素疾病，个体差异明显。目前研究发现，多种因素均与尿道下裂有关，包括遗传因素、产前激素不足、母体胎盘因素及环境影响，因此，尿道下裂往往是多因素结合的产物。在过去的十年间，大量研究致力于揭示尿道下裂的遗传基因特点。这些研究包括骨形成蛋白（BMP）、成纤维细胞生长因子（FGF）、同源盒基因A（HOXA）等基因，涵盖了性别基因的转录、性激素的合成及相关基因的信号传导。尽管目前发现了大量尿道下裂相关基因，但仍需大样本病例临床对照研究明确这些基因的诊断效能及生物学意义。同时，随着测序技术的发展，外显子和全基因组测序也将揭示基因与基因、基因与环境的相互作用，更好地探索尿道下裂的分子机制，从而探寻合适分子标记物及治疗干预的靶点。综述这一领域的研究现状，并对一些与尿道下裂有关基因的研究进展进行探讨。