Fabry Disease and Kidney Transplantation

Abstract

Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The clinical features of male hemizygotes include acroparaesthesia, hypohidrosis, angiokeratoma, and corneal opacity from early childhood and major end-organ disease with the involvement of the kidneys, heart, and brain in adulthood. In the field of kidney transplantation, patients with Fabry disease were reported to have a similar graft survival rate and lower patient survival rate compared to an age-matched cohort with other causes of end-stage renal disease (ESRD). Enzyme replacement therapy is considered to be continuously necessary after kidney transplantation to improve the patient survival rate. Fabry disease is reported to be present in 1.2% of male Japanese patients with ESRD clinically diagnosed with chronic glomerulonephritis of unknown origin. Medical history taking while considering Fabry disease is necessary when encountering young male patients with unknownorigin ESRD. On the other hand, female heterozygotes may exhibit symptoms of Fabry disease because of random X-chromosome inactivation (lyonization). Here, we review Fabry disease in the presence of kidney transplantation, including the prognosis of male hemizygotes receiving kidney transplantation and accidental kidney donation from an undiagnosed female heterozygotes, with a consideration of experience in our hospital．