Hereditary Calcium Oxalate Stone Disease Registry Planning Meeting
August 9, 2002
Drs. Chris Danpure and Dawn Milliner
BackgroundThe planning meeting on creating a registry for hereditary calcium oxalate stone disease was held August 9, 2002, in Boston, Massachusetts. Drs. Chris Danpure and Dawn Milliner began the meeting with introductions and background presentations on the molecular, genetic, and clinical features of the primary hyperoxalurias (PHs).
Mutations in the AGXT gene (which encodes alanine-glyoxylate aminotransferase [AGT]), a peroxisomal enzyme, lead to type I PH, and mutations in the GRHPR gene (which encodes glyoxylate reductase [GR], and hydroxypyruvate reductase [HPR]) lead to type II PH. In addition, some patients have unclassified PH.
Dr. Milliner noted that most clinicians have limited experience with these rare, hereditary disorders, and this can lead to errors in diagnosis and management. Furthermore, because the diseases are rare, disease expression has not been well defined, progress defining the pathophysiology is slow, and researchers have had little opportunity to critically evaluate treatment interventions.
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