骨髄性プロトポルフィリン症の家族例

・骨髄性プロトポルフィリン症の家族例を経験した． ・遺伝子解析の結果、フェロケラターゼ（FECH遺伝子）にミスセンス変異を認め，肝障害のリスクは低いと予想された． ・サンスクリーン剤（PA＋＋＋）の使用と衣服による遮光で加療を開始した． （「症例のポイント」より）

Familial occurrence of erythropoietic protoporphyria

Maruta, Shino1）Miyashita, Azusa1）Nakano, Hajime2）Ihn, Hironobu1） 1）Department of Dermatology, Kumamoto University School of Medicine 2）Department of Dermatology, Hirosaki University School of Medicine

Abstract A 13-year-old boy realized that he had recurrent photosensitive skin reactions after playing soccer in spring a year ago. During his first hospital visit, we found sunken scars on the back of his hands and discovered that his relatives also had photosensitivity. The boy’s total erythrocyte protoporphyrin was elevated to 884μg/dL RBC, and photo-hemolysis phenomenon was positive; therefore, we diagnosed erythropoietic protoporphyria. We performed genetic tests to them and discovered the same mutation in ferrochelatase gene(FECH), and intronic polymorphism at IVS-48. Now they are preventing from the sun and UV light by covering themselves and using sunscreen. So far, no symptoms of hepatopathy have been found.