|
|
- Primary Hyperoxaluria Type 1 & Type 2
 Links
PH is a genetic (autosomal recessive) disease involving a deficiency of peroxisomal alanine glyoxylate aminotransferase activity in the liver. The resulting inability to regulate oxalate synthesis leads to significant accumulations of excess oxalate in the blood and urine.
- PH is bi-modal, with two peaks of mortality. Many Primary Hyperoxaluria patients will be diagnosed and die of renal failure before their first birthday, with the remainder typically diagnosed in early adolescence. Although forced hydration, careful dietary management, and administration of Vitamin B6 and urine crystalline inhibitors are typically used to mitigate the effects of the disease, there is no known cure. For those who survive infancy, the usual course of events is a gradual decline in renal function over a period of years and a characteristically short final stage with the onset of chronic renal failure, which may appear in early childhood but which regularly occurs in late childhood or early adult life. In general, one-half of all patients reach end stage renal disease before 25 years of age. In a longitudinal study in Saudi Arabia published in 1999, all 16 patients progressed to end stage renal disease within six months to two years of diagnosis.
- We estimate there are approximately 1,000 PH patients in major pharmaceutical markets. Dialysis (even when used intensively) is not able to remove enough oxalate; kidney transplantation alone offers only a temporary solution because the replacement kidney is attacked by the disease. While combined kidney-liver transplantation appears to give good results, availability is limited, and the effect of life-long immune suppression is severe, particularly in children. The disease would appear to be eligible for fast-track / orphan drug status with the FDA.
-
-
-
- Links:
- Family Village - Oxalosis & Hyperoxaluria
- Oxalosis and Hyperoxaluria Links
- Oxalosis and Hyperoxaluria Foundation
-
-
-
-
-
-
-
-
-
-
|
|
