2010 Volume 43 Issue 1 Pages 99-103
A 29-year-old male had experienced episodic pain in the upper extremities since childhood, but it was diagnosed to be of unexplained origin and had been left untreated. Proteinuria was noted during a routine examination in high school, and a renal biopsy was recommended. However, these two problems remained unsolved. In 2005, he demonstrated impaired renal function on medical examination. He was subsequently diagnosed with advanced renal failure (BUN 55.2 mg/dL, Cr 4.9 mg/dL) and the kidneys were both atrophic. Although he was treated with antihypertensive drugs and diet, renal function continued to significantly worsen. On March 29, 2007, he was transported to the hospital by ambulance because of disturbed consciousness. Since there was no indication of cerebral vascular disturbance, he was diagnosed with end-stage renal failure (BUN 256.5 mg/dL, Cr 26.4 mg/dL) and associated lungs congestion. Haemodialysis was initiated soon after hospitalization, and consciousness recovered. Thereafter, he developed severe pain in the extremities which rapidly progressed. This suggested the possibility of Fabry's disease. The absence of α galactosidase A activity confirmed that diagnosis. The administration of carbamazepine yielded some improvement in the pain, but it remained severe and affected his quality of life (QOL). Enzyme replacement therapy was initiated (ERT : 1 mg/kg of agalsidase beta once every two weeks) and his QOL thereafter improved. This report presents a case first diagnosed as Fabry's disease based on severe pain emerging after the initiation of hemodialysis. The pain was thereafter successfully controlled with ERT. Although Fabry's disease is a rare disorder it should be considered in the differential diagnosis of pain and proteinuria.
