Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population
Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population
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DOI：
10.9738/intsurg-d-14-00082.1
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发表时间：
2014-11-01
影响因子：
0.1
通讯作者：
Gunadi
中科院分区：
文献类型：
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作者：
Rochadi;Haryana, Sophia Mubarika;Gunadi
我们研究了RET c.2307T>G多态性对印度尼西亚先天性巨结肠症（PSNHD）后矢状神经切除术结局的影响。先天性巨结肠是一种新生儿先天性神经嵴病，其特征是肠神经节沿着不同长度的肠缺失。RET c.2307T>G多态性已被证明与HSCR相关。HSCR的手术方法很多，各有优缺点。我们在短节段HSCR患者中进行了PSNHD。31例非综合征HSCR患者接受PSNHD。采用PCR-RFLP技术检测基因组DNA的多态性。PSNHD后小肠结肠炎和便秘结局的发生率分别为6例（19%）和4例（13%）患者。RET c.2307T>G多态性对PSNHD后小肠结肠炎或便秘的结局均无影响，P值分别为0.07（OR = 0.28; 95%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 c.2307T>G多态性可能不会影响印度尼西亚PSNHD手术的结果。此外，需要一项样本量更大的多中心研究来澄清这一结果。
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.