Abstract
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.
