Haryana Sophia Mubarika, Sadewa Ahmad Hamim
1 Pediatric Surgery Division, Department of Surgery.
Int Surg. 2014 Nov-Dec;99(6):802-6. doi: 10.9738/INTSURG-D-14-00082.1.
We investigated the effect of RET c.2307T>G polymorphism on the outcomes of posterior sagittal neurectomy for Hirschsprung disease (PSNHD) procedure in Indonesia. Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of enteric ganglia along variable lengths of the intestine in neonates. The RET c.2307T>G polymorphism has been shown to be associated with HSCR. Many surgical techniques with some advantage and disadvantage were established for HSCR. We have conducted PSNHD in short-segment HSCR patients.Thirty-one nonsyndromic HSCR patients underwent PSNHD. The polymorphism was determined using PCR-RFLP in genomic DNA. The rate of enterocolitis and constipation outcomes following PSNHD were 6 (19%) and 4 (13%) patients, respectively. The RET c.2307T>G polymorphism did not influence either enterocolitis or constipation outcome following PSNHD at P value of 0.07 (OR = 0.28; 95% CI = 0.08-1.05) and 0.67 (OR = 0.58; 95% CI = 0.12-2.76), respectively. Our study suggested that RET c.2307T>G polymorphism may not affect outcomes of PSNHD procedure in Indonesia. Furthermore, a multicenter study with a larger sample size is necessary to clarify this result.
我们研究了RET基因c.2307T>G多态性对印度尼西亚先天性巨结肠症(HSCR)后矢状入路神经切除术(PSNHD)手术结局的影响。先天性巨结肠症(HSCR)是一种神经嵴病,其特征是新生儿肠道不同长度段缺乏肠神经节。RET基因c.2307T>G多态性已被证明与HSCR有关。针对HSCR建立了许多各有优缺点的手术技术。我们对短段型HSCR患者进行了PSNHD手术。31例非综合征性HSCR患者接受了PSNHD手术。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测基因组DNA中的多态性。PSNHD术后发生小肠结肠炎和便秘的患者分别为6例(19%)和4例(13%)。RET基因c.2307T>G多态性对PSNHD术后小肠结肠炎和便秘结局均无影响,P值分别为0.07(比值比[OR]=0.28;95%置信区间[CI]=0.08 - 1.05)和0.67(OR = 0.58;95% CI = 0.12 - 2.76)。我们的研究表明,RET基因c.2307T>G多态性可能不会影响印度尼西亚PSNHD手术的结局。此外,有必要进行一项更大样本量的多中心研究来阐明这一结果。