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黑色素斑-胃肠多发性息肉综合征(Peutz-Jeghers综合征,PJS)[1],又称黑斑—息肉综合征,目前已知其为一常染色体显性遗传性疾病,是由位于19p染色体上的称之为STK-11或叫LKB1的基因突变所致[2]。本病系伴有黏膜、皮肤色素沉着的全胃肠道多发性息肉病。可能通过多个显性多效基因遗传,外显率很高,同一家族罹患者甚多(患者子女中50%发病),常在10岁前起病[3]。本病临床少见,现将我院自2003年来住院治疗的48例该病患者报告如下。
The melanotic plaque-intestinal multiple polyposis syndrome (Peutz-Jeghers syndrome, PJS) [1], also known as melasma-polyposis syndrome, is currently known as an autosomal dominant genetic disorder that is located in 19p. The mutation on the chromosome called STK-11 or LKB1 [2]. The disease is accompanied by mucosal, skin pigmentation of the entire gastrointestinal polyposis. It may be inherited through several dominant multiple-effects genes. The penetrance is very high. There are many patients in the same family (50% of the patients’ children), and often onset before the age of 10 [3]. The disease is rare in clinical practice. We now report the 48 cases of this disease hospitalized in our hospital since 2003.