Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy.
Fabry disease is an X-linked recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. Enzyme replacement therapy (ERT) for this disorder has been available in Europe since 2001. However, its effect on advanced renal failure remains controversial. We report the case of a patient whose decline in renal function was reduced by the administration of ERT (agalsidase-alpha). This reduction was more pronounced after doubling the dose of the enzyme. The rate of deterioration of eGFR went from 6.3 ml/min/year prior to the start of ERT (0.2 mg/kg) to 2 ml/min/year (0.4 mg/kg). To our knowledge, this is the first reported case of a patient with moderately impaired renal function treated with high doses of ERT and follow-up of 6 years. The data shown here suggest that ERT may have a very positive impact on renal function even in advanced stages. The role of proteinuria and its control seem to have a clear responsibility for this favorable outcome.
Nephrology Department, Molecular Biology Laboratory, Puigvert Foundation, Barcelona, Spain. rtorra@fundacio-puigvert.es
R
R
Torra
F
F
Algaba
E
E
Ars
S
S
Santin
P
P
Fernández-Llama
J
J
Ballarin
D000328:Adult; D018450:Disease Progression; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D008297:Male; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D007527:Isoenzymes; D000519:alpha-Galactosidase