中川 雅美¹, 岡田 昌子², 長谷川 新治¹, 山口 慧³, 横山 建二³, 森 智美⁴, 北田 弘美⁴, 小川 恭子⁴, 寺本 美穂⁴, 内藤 雅文²

Masami NAKAGAWA¹, Masako OKADA², Shinji HASEGAWA¹, Satoshi YAMAGUCHI³, Kenji YOKOYAMA³, Tomomi MORI⁴, Hiromi KITADA⁴, Kyoko OGAWA⁴, Miho TERAMOTO⁴, Masafumi NAITO²

¹独立行政法人地域医療機能推進機構JCHO大阪病院循環器科, ²独立行政法人地域医療機能推進機構JCHO大阪病院臨床検査科, ³独立行政法人地域医療機能推進機構JCHO大阪病院内科, ⁴独立行政法人地域医療機能推進機構JCHO大阪病院中央検査室

¹Department of Cardiology, Japan Community Health Care Organization Osaka Hospital, ²Department of Clinical Laboratory, Japan Community Health Care Organization Osaka Hospital, ³Department of Internal Medicine, Japan Community Health Care Organization Osaka Hospital, ⁴Department of Central Clinical Laboratory, Japan Community Health Care Organization Osaka Hospital

キーワード : Fabry disease, left ventricular hypertrophy, diastolic dysfunction, enzyme-replacement therapy, chronic kidney disease

58歳，男性．2004年他院にて特発性肥大型心筋症と診断され，同時期に尿蛋白を指摘されていた．腎機能悪化にて2011年3月かかりつけ医より当院へ紹介となり，慢性腎臓病ステージIV期と診断された．腹部CT検査では，腎臓の萎縮所見を認めたため腎生検は見合わせ，保存的加療を受けることになった．初診時の心臓超音波検査では左室中隔壁厚16 mmの求心性左室肥大と拡張障害を認めた．2012年12月より全身倦怠感を理由に通院を自己中断した．2013年4月嘔気，食欲低下症状のため当院受診した際には末期腎不全の状態であり，血液透析が導入された．心臓超音波検査では左室中隔壁厚18 mmと左室肥大が進行し，拡張障害を呈していた．姉がFabry病であったため患者も同じ疾患が疑われた．白血球αガラクトシダーゼA活性の欠損と遺伝子異常がありFabry病と診断された．酵素補充療法導入6ヵ月後の心臓超音波検査では左室中隔壁厚21 mmと左室肥大は進行性で，拡張障害が持続していた．Fabry病は稀な疾患であるが，左室肥大に慢性腎臓病を合併する症例に潜在している可能性がある．早期診断の重要性を痛感した1症例について報告する．

A 58-year-old man received a diagnosis of idiopathic hypertrophic cardiomyopathy at another hospital in 2004, and he was also told he had proteinuria at around the same time. After his doctor referred him to our hospital for worsening renal function in March 2011, he was diagnosed with chronic kidney disease (stage IV). Abdominal computed tomography demonstrated bilateral renal atrophy; therefore, renal biopsy was withheld. Conservative medical therapy was then started. Transthoracic echocardiography (TTE) performed at the initial visit showed concentric left ventricular hypertrophy (interventricular septum; IVS 16 mm) and diastolic dysfunction. He stopped visiting our hospital for the reason of general fatigue after December 2012. However, he returned to our hospital with complaints of nausea and anorexia in April 2013. He progressed to end stage renal disease, and hemodialysis was initiated. TTE showed progression of left ventricular hypertrophy (IVS 18 mm) and diastolic dysfunction. His sister had Fabry disease, and he was also suspected of having the same disease. He had deficiency of alpha-galactosidase A activity in peripheral leukocytes and the genetic mutation. These findings confirmed that he had Fabry disease. Despite 6 months of enzyme-replacement therapy, TTE revealed progressive left ventricular hypertrophy (IVS 21 mm) and diastolic dysfunction. While Fabry disease is rare, this case highlights the importance of an early diagnosis of Fabry disease among patients with left ventricular hypertrophy and chronic kidney disease.