Raman Venkat Shankar, Bajpai Minu, Ali Abid
Department of Pediatric Surgery, Army Hospital R&R, Dhaula Kuan, India.
All India Institute of Medical Sciences, New Delhi, India.
J Indian Assoc Pediatr Surg. 2016 Jan-Mar;21(1):28-32. doi: 10.4103/0971-9261.165842.
The Bladder Exstrophy-Epispadias Complex (BEEC) is the most serious form of midline abdominal malformation. The etiology of BEEC is unknown and is thought to be multifactorial. Methylenetetrahydrofolate reductase (MTHFR) polymorphism C677T is strongly associated with other midline abnormalities such as neural tube defects. No proper case-control study existed comparing MTHFR polymorphism with BEEC. We sought to find an association with MTHFR polymorphism and patients with bladder exstrophy (BE).
The design of the study was a case-control study, involving 50 children with BEEC and 50 normal healthy school children. Genetic analysis for MTHFR 677 polymorphism was carried out after DNA extraction and polymerase chain reaction amplification. Epidemiological analysis was done by using the birth defect questionnaire on parents of BEEC.
Forty-two classical BE, two cloacal exstrophies (CE), four epispadias, and two exstrophy variant patients were a part of this study. Severe variety of BE had a significant association with C667T MTHFR polymorphism as compared to the normal control population (P = 0.01).
C677T MTHFR polymorphism has a strong association with severe variety (CE) of BEEC occurrence.
膀胱外翻-尿道上裂复合畸形（BEEC）是最严重的中线腹部畸形形式。BEEC的病因尚不清楚，被认为是多因素的。亚甲基四氢叶酸还原酶（MTHFR）基因多态性C677T与其他中线异常如神经管缺陷密切相关。此前尚无将MTHFR基因多态性与BEEC进行比较的合适病例对照研究。我们试图寻找MTHFR基因多态性与膀胱外翻（BE）患者之间的关联。
本研究设计为病例对照研究，纳入50例BEEC患儿和50名正常健康学童。在DNA提取和聚合酶链反应扩增后，对MTHFR 677基因多态性进行基因分析。通过对BEEC患儿父母进行出生缺陷问卷调查进行流行病学分析。
本研究纳入了42例典型BE、2例泄殖腔外翻（CE）、4例尿道上裂和2例外翻变异型患者。与正常对照人群相比，严重类型的BE与C667T MTHFR基因多态性有显著关联（P = 0.01）。
C677T MTHFR基因多态性与严重类型（CE）的BEEC发生密切相关。
