PDF(Pubmed)
Abstract：
Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age.
摘要：
Peutz-Jeghers综合征（PJS）是19号染色体上STK11/LKB1基因的常染色体显性突变，通常以皮肤粘膜色素沉着为特征，错构瘤息肉,贫血,消化道出血和肠套叠。我们介绍了一名没有相关家族史的21岁女性的病例，该女性在两次肠套叠到医院就诊后接受了PJS的诊断。PJS患者终生患胃病的风险增加，小肠,结肠,胰腺,乳房,子宫颈,子宫癌和睾丸癌早期需要宗教监测。
