Assessment of renal pathology and dysfunction in children with Fabry disease

Clin J Am Soc Nephrol. 2010 Feb;5(2):365-70. doi: 10.2215/CJN.08091109. Epub 2010 Jan 7.

Abstract

Overt renal disease often first presents in male individuals with Fabry disease in early to middle adulthood, but proteinuria and reduced GFR may occur in adolescents and in young children. More recently, kidney biopsy data have shown early renal histologic changes in pediatric patients, and kidney dysfunction, primarily proteinuria, seems to be more common in girls. Renal investigations and their timing in children remain poorly defined. A consensus on renal investigations is necessary to understand the natural progression of the disease and to evaluate the efficacy of treatments such as enzyme replacement therapies. This article addresses three main categories: Use of GFRs, measuring albuminuria, and renal biopsies in children.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Albuminuria / diagnosis
  • Albuminuria / etiology
  • Albuminuria / pathology
  • Albuminuria / physiopathology
  • Biomarkers / urine
  • Biopsy
  • Child
  • Disease Progression
  • Enzyme Replacement Therapy
  • Fabry Disease / complications*
  • Fabry Disease / pathology
  • Fabry Disease / physiopathology
  • Fabry Disease / therapy
  • Female
  • Glomerular Filtration Rate
  • Humans
  • Kidney / pathology*
  • Kidney / physiopathology
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / etiology
  • Kidney Diseases / pathology
  • Kidney Diseases / physiopathology
  • Kidney Diseases / therapy
  • Male
  • Predictive Value of Tests
  • Time Factors
  • Treatment Outcome
  • Young Adult

Substances

  • Biomarkers