Hyperoxaluria type 2
Hyperoxaluria Type 2 is a rare genetic disorder characterized by the excessive production and accumulation of oxalate, a substance found in many foods, in the body. This condition leads to a high concentration of oxalate in the urine, known as hyperoxaluria. When oxalate combines with calcium, it forms calcium oxalate crystals, which can lead to kidney stones and other kidney problems. Hyperoxaluria Type 2 is specifically caused by mutations in the GRHPR gene, which encodes the enzyme glyoxylate reductase/hydroxypyruvate reductase. This enzyme is crucial for the normal metabolism of glyoxylate, a by-product of metabolism. The deficiency in this enzyme activity leads to the accumulation of glyoxylate, which is then converted into oxalate, contributing to the high levels found in patients with this condition.
Symptoms and Diagnosis[edit | edit source]
The symptoms of Hyperoxaluria Type 2 can vary but often include the recurrent formation of kidney stones, which can lead to kidney pain, blood in the urine (hematuria), and urinary tract infections. In severe cases, the excessive accumulation of oxalate can lead to kidney damage (nephrocalcinosis) and ultimately chronic kidney disease (CKD).
Diagnosis of Hyperoxaluria Type 2 typically involves a combination of urine tests to measure oxalate levels, genetic testing to identify mutations in the GRHPR gene, and sometimes kidney biopsy to assess the extent of oxalate deposits in the kidney tissue.
Treatment[edit | edit source]
There is no cure for Hyperoxaluria Type 2, and treatment focuses on managing symptoms and preventing the formation of kidney stones. This may include high fluid intake to dilute the urine and reduce the concentration of oxalate, dietary modifications to limit oxalate intake, and the use of medications like potassium citrate to prevent stone formation. In cases where kidney function has significantly declined, dialysis or kidney transplantation may be necessary.
Genetics[edit | edit source]
Hyperoxaluria Type 2 is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carriers, who have only one copy of the mutation, typically do not show symptoms of the disease.
See Also[edit | edit source]
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