Ensayos clínicos

Inclusion Criteria:

• Female with age ≥ 20 years.
• Liver biopsy documenting AGT activity below the normal reference range confirming PH1 OR Liver biopsy documenting GR/HPR activity below the normal reference range confirming PH2.
• Molecular genetic analysis (DNA testing) confirming a mutation known to cause PH1, PH2, or PH3; Homozygosity or compound heterozygosity of mutations of AGXT, GRHPR, or HOGA1 genes.
• Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day) in the absence of a gastrointestinal disease known to cause hyperoxaluria (enteric hyperoxaluria).
• If the patient presented in end stage renal failure, and neither a liver biopsy or mutational analysis were obtained, 5a and 5b must be fulfilled along with at least one of the criteria in 5c.
• Pre-dialysis plasma oxalate greater than 60 µmol/L; AND
• Renal biopsy confirming extensive oxalate deposition.
• Evidence of systemic oxalosis (at least one of the following criteria):
  • retinal oxalate deposits;
  • oxalate deposits in bone marrow, skin, or other tissue (histologically confirmed);
  • nephrocalcinosis;
  • calcium oxalate nephrolithiasis.

Exclusion Criteria:

• Unwilling or unable to provide consent/assent.
• Patients unable or unwilling to provide medical record information.