家族性幼年型大腸息肉症：病例報告

Familial Juvenile Polyposis Coli: A Case Report

家族性幼年型大腸息肉症是一種少見的常染色體顯性遺傳疾病、特徵是在大腸直腸有無數息肉性的缺陷瘤，通常發生在小孩，並且有變惡性的可能。常見臨床症狀有肛門出血、貧血及肛門脫出。我們要報告兩姐妹有間歇性的肛門出血及脫出症狀，檢查發現有很多幼年型大腸息肉及嚴重貧血，她們接受經肛門息肉切除術及多次的輸血治療，但症狀仍然持續復發，最後她們分別都接受大腸直腸全切除手術，兩姐妹術後皆恢復良好，且經過三年多的追蹤，並無發現復發情形。

Familial juvenile polyposis coli (JPC) is an uncommon autosomal dominant trait characterized by the occurrence of numerous polypoid hamartomas in the colorectum. The condition usually occurs in childhood with high malignant potential. Rectal bleeding, anemia and rectal prolapse are the most common clinical presentations. Two young sisters with presentations of intermittent rectal bleeding, rectal prolapse and severe anemia revealed hamatomatous colonic polyposis. They were treated by transrectal polypectomy and blood transfusion initially, but the symptoms relapsed frequently. They received restorative proctocolectomy finally. The patients recovered uneventfully after operation and remained well during three years of follow up.