Assessment of renal pathology and dysfunction in children with fabry disease

Uma Ramaswami, Behzad Najafian, Arrigo Schieppati, Michael Mauer, Daniel G. Bichet

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)365-370
Number of pages6
JournalClinical Journal of the American Society of Nephrology
Issue number2
StatePublished - 2010


Dive into the research topics of 'Assessment of renal pathology and dysfunction in children with fabry disease'. Together they form a unique fingerprint.

Cite this