Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference

Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.

Abstract

Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Despite marked advances in patient care and improved overall outlook, there is a need to better understand the pathogenesis of this glycosphingolipidosis and to determine the appropriate age to initiate therapy in all types of patients. The need to develop more effective specific therapies was also emphasized.

Keywords: Fabry disease; Fabry nephropathy; chronic kidney disease; enzyme replacement therapy; standard of care.

Publication types

  • Congress

MeSH terms

  • Biomedical Research
  • Disease Progression
  • Enzyme Replacement Therapy
  • Fabry Disease* / diagnosis
  • Fabry Disease* / epidemiology
  • Fabry Disease* / genetics
  • Fabry Disease* / therapy
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Heredity
  • Humans
  • Mutation
  • Nephrology*
  • Pedigree
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Risk Assessment
  • Risk Factors
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / therapeutic use

Substances

  • alpha-Galactosidase
  • alpha-galactosidase A, human