湯淺 敏典¹, 堀添 善尚¹, 茶圓 秀人¹, 高崎 州亜¹, 水上 尚子², 木佐貫 彰³, 樋口 公嗣¹, 宮田 昌明¹, 大石 充¹

Toshinori YUASA¹, Yoshihisa HORIZOE¹, Hideto CYAEN¹, Kunitsugu TAKASAKI¹, Naoko MIZUKAMI², Akira KISANUKI³, Kouji HIGUCHI¹, Masaaki MIYATA¹, Mitsuru OHISHI¹

¹鹿児島大学医歯学総合研究科心臓血管・高血圧内科学, ²鹿児島大学病院臨床検査部, ³鹿児島大学病院保健学科

¹Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, ²Clinical Laboratory, Kagoshima University Hospital, ³Department of Health Science, Kagoshima University Hospital

キーワード :

Classic Fabry disease is a disorder firstly reported in 1898 by German and British dermatologist. The accumulation of sphingoglycolipid to an organ by loss of α-galactosidase A causes various disorders. Enzyme activity slightly remains in cardiac Fabry disease whose obstacle limits to heart. The onset age in cardiac Fabry disease is older than classic one. Furthermore, Fabry disease develop even in females who should be a carrier while taking an X chromosome-related hereditary form. Echocardiographic findings in Fabry disease is left ventricle （LV） hypertrophy at early and middle period of illness. When a stage of this disease progresses, LV wall abnormality develops with wall thinning on the basal posterior wall. Since enzyme replacement therapy spreads as basic treatment of this disease in Japan after 2004, the start of therapy before the decrement of cardiac function is expected. Echocardiography is one of the important tools in clinical practice of Fabry disease. Therefore, I want to show the roles of echocardiography in early checkup, follow-up and the curative effect judgment in Fabry disease.