Primary Hyperoxaluria
Primary Hyperoxaluria Causes
Primary hyperoxaluria is often caused by mutations in the alanine-glyoxylate aminotransferase and glyoxylate reductase/hydroxypyruvate reductase.
Primary Hyperoxaluria Definition
Primary hyperoxaluria is a rare condition marked by overproduction of the substance oxalate also known as oxalic acid. Extreme oxalate deposits can combine with calcium and forms calcium oxalate leading to kidney damage or failure and injury to other organs in the body. There are two types of primary hyperoxaluria; type 1 primary hyperoxaluria and type 2 primary hyperoxaluria. The first one lacks the liver enzyme alanine-glyoxylate aminotransferase while the second type lacks the enzyme glyoxylate reductase/hydroxypyruvate reductase.
Primary Hyperoxaluria Diagnosis
Urine and blood examinations tests blood and urine for DNA changes that may cause primary hyperoxaluria. X-ray, CT scan and ultrasound of the kidney and bladder provides internal view of the kidney and urinary tract to reveal calcium oxalate deposits or kidney stones. Liver or kidney biopsy can confirm diagnosis of primary hyperoxaluria.
Primary Hyperoxaluria Symptoms and Signs
Primary hyperoxaluria is a rare condition marked by overproduction of the substance oxalate also known as oxalic acid. Extreme oxalate deposits can combine with calcium and forms calcium oxalate leading to kidney damage or failure and injury to other organs in the body. There are two types of primary hyperoxaluria; type 1 primary hyperoxaluria and type 2 primary hyperoxaluria. The first one lacks the liver enzyme alanine-glyoxylate aminotransferase while the second type lacks the enzyme glyoxylate reductase/hydroxypyruvate reductase.
Primary Hyperoxaluria Treatment
Treatment of primary hyperoxaluria is aimed at preventing the accumulation of calcium oxalate through medications like pyridoxine that can reduce the oxalate production in the liver, high fluid intake, and dietary modifications.