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Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy.
Clin Nephrol. 2008 Jun; 69(6):445-9.CN

Abstract

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.

Authors+Show Affiliations

Nephrology Department, Molecular Biology Laboratory, Puigvert Foundation, Barcelona, Spain. rtorra@fundacio-puigvert.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18538121

Citation

Torra, R, et al. "Preservation of Renal Function in a Patient With Fabry Nephropathy On Enzyme Replacement Therapy." Clinical Nephrology, vol. 69, no. 6, 2008, pp. 445-9.
Torra R, Algaba F, Ars E, et al. Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy. Clin Nephrol. 2008;69(6):445-9.
Torra, R., Algaba, F., Ars, E., Santin, S., Fernández-Llama, P., & Ballarin, J. (2008). Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy. Clinical Nephrology, 69(6), 445-9.
Torra R, et al. Preservation of Renal Function in a Patient With Fabry Nephropathy On Enzyme Replacement Therapy. Clin Nephrol. 2008;69(6):445-9. PubMed PMID: 18538121.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy. AU - Torra,R, AU - Algaba,F, AU - Ars,E, AU - Santin,S, AU - Fernández-Llama,P, AU - Ballarin,J, PY - 2008/6/10/pubmed PY - 2008/9/25/medline PY - 2008/6/10/entrez SP - 445 EP - 9 JF - Clinical nephrology JO - Clin Nephrol VL - 69 IS - 6 N2 - 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. SN - 0301-0430 UR - https://www.unboundmedicine.com/medline/citation/18538121/Preservation_of_renal_function_in_a_patient_with_Fabry_nephropathy_on_enzyme_replacement_therapy_ L2 - https://medlineplus.gov/kidneydiseases.html DB - PRIME DP - Unbound Medicine ER -