非特異性多発性小腸潰瘍症/CEASの遺伝子異常

SLCO2A1 Mutations in Chronic Nonspecific Multiple Ulcers of the Small Intestine/Chronic Enteropathy Associated with SLCO2A1 Gene（CEAS）

要旨●非特異性多発性小腸潰瘍症は女性に好発し，若年より慢性に経過する鉄欠乏性貧血と蛋白漏出性腸症に伴う低蛋白血症を主徴とする．近年，プロスタグランジンのトランスポーター遺伝子SLCO2A1が責任遺伝子であることが判明した．ただし，SLCO2A1遺伝子変異と臨床病態に有意な相関はなく，今後のさらなる病態の解明と治療法の開発が必要とされる．

　Chronic nonspecific multiple ulcers of the small intestine predominantly occur in females, and their characteristic manifestations such as iron deficiency anemia and protein-losing enteropathy persist in such patients since adolescence. Recently, germ-line SLCO2A1 mutations have been identified to cause these ulcers. However, no obvious correlations between the types of mutations and the clinical phenotypes have been observed. Further studies for determining the factors influencing the clinical phenotypes and for establishing effective treatment are necessary.