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RET基因c.2307T>G多态性对印度尼西亚人群先天性巨结肠症后矢状入路神经切除术结局的影响。

Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population.

作者信息

Haryana Sophia Mubarika, Sadewa Ahmad Hamim

机构信息

1 Pediatric Surgery Division, Department of Surgery.

出版信息

Int Surg. 2014 Nov-Dec;99(6):802-6. doi: 10.9738/INTSURG-D-14-00082.1.

Abstract

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.

摘要

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。

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