Primary hyperoxaluria type 1

Disease Overview

Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate).[12023][12024]

Signs and symptoms of PH1 vary in severity and may begin any time from infancy to early adulthood. Symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. Left untreated, PH1 can result in end-stage renal disease, which is life-threatening.[12023][12024]

PH1 is due to mutations in a gene called AGXT. Inheritance is autosomal recessive.[12023]

Early treatment is important for maintaining kidney function. Each person’s treatment plan depends on his/her symptoms and the severity of the condition. Management may involve high fluid intake; vitamin B6 (pyridoxine); calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium); kidney stone therapies; and dialysis in some cases. Liver and/or kidney transplantation may be needed.[12025]

Synonyms

• HP1
• Oxalosis 1
• Glycolic aciduria
• Alanine-glyoxylate aminotransferase deficiency
• Peroxisomal alanine glyoxylate aminotransferase deficiency
• Hepatic AGT deficiency
• Serine pyruvate aminotransferase deficiency