一名9个月大的中国佩-吉综合征婴儿的临床特征、内镜下息肉切除术及STK11基因突变
Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant.
作者信息
Huang Zhi-Heng, Song Zai, Zhang Ping, Wu Jie, Huang Ying
机构信息
Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai 201102, China.
出版信息
World J Gastroenterol. 2016 Mar 21;22(11):3261-7. doi: 10.3748/wjg.v22.i11.3261.
AIM
To investigate multiple polyps in a Chinese Peutz-Jeghers syndrome (PJS) infant.
METHODS
A nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month. The clinical characteristics, a colonoscopic image, the pathological characteristics of the polyps and X-ray images of the intestinal perforation were obtained. Serine threonine-protein kinase 11 (STK11) gene analysis was also performed using a DNA sample from this infant.
RESULTS
Here we describe the youngest known Chinese infant with PJS. Five polyps, including a giant polyp of approximately 4 cm × 2 cm in size, were removed from the infant's intestine. Laparotomy was performed to repair a perforation caused by pneumoperitoneum. The pathological results showed that this child had PJS. Molecular analysis of the STK11 gene further revealed a novel frameshift mutation (c.64_65het_delAT) in exon 1 in this PJS infant.
CONCLUSION
The appropriate treatment method for multiple polyps in an infant must be carefully considered. Our results also show that the STK11 gene mutation is the primary cause of PJS.
目的
研究一名中国佩-吉二氏综合征（PJS）婴儿的多发性息肉。
方法
一名9个月大的PJS婴儿因直肠息肉反复脱垂1个月入住我院。获取了其临床特征、结肠镜图像、息肉的病理特征以及肠穿孔的X线图像。还使用该婴儿的DNA样本进行了丝氨酸苏氨酸蛋白激酶11（STK11）基因分析。
结果
在此我们描述了已知最年幼的患有PJS的中国婴儿。从该婴儿肠道中切除了5个息肉，其中包括一个大小约为4厘米×2厘米的巨大息肉。进行了剖腹手术以修复气腹引起的穿孔。病理结果显示该患儿患有PJS。对STK11基因的分子分析进一步揭示，这名PJS婴儿的外显子1存在一种新的移码突变（c.64_65het_delAT）。
结论
必须仔细考虑婴儿多发性息肉的合适治疗方法。我们的结果还表明，STK11基因突变是PJS的主要病因。
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