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| Disease found: | Primary Hyperoxaluria Type 1 |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent or reduced, glyoxylate is converted to oxalate. Oxalate has a high affinity for calcium leading to calcium oxalate nephrolithiasis and potentially calcium oxalate deposition in the kidney and other organs. [more info] |
| Signs and Symptoms: | Variable onset (from infancy to late adulthood). Recurrent symptomatic nephrolithiasis, progressive chronic kidney disease, oxalosis, failure to thrive. |
| Diagnosis: | Elevated urine oxalate excretion, genetic testing for AGXT mutations, and rarely liver biopsy for evidence of reduced or absent AGT enzyme activity. |
| Treatment: | Hyperhydration, pyridoxine (for some genotypes), siRNA therapeutic agents lumasiran or nedosiran, and combined kidney liver transplantation for patients with advanced chronic kidney disease. [more info] |
| Clinical Management: | Intensive hemodialysis for patients with advanced chronic kidney disease while awaiting combined kidney liver transplantation to avoid risk of oxalosis. [more info] |
| Referral: | in house: Nephrology, Urology. Specialists and additional support at the OHF Care Center Network. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | Many current clinical trials here and a registry available here. |