E72.530

Clinical Causes: Inherited genetic mutation in the AGXT gene, which encodes the enzyme alanine-glyoxylate aminotransferase (AGT). Autosomal recessive inheritance pattern, meaning both parents must pass the faulty gene for a child to be affected. Mutations lead to a deficient or dysfunctional AGT enzyme, resulting in the accumulation of oxalate. No environmental factors are directly associated with the development of primary hyperoxaluria type 1, although environmental influences may impact disease severity.

Key Symptoms: Kidney stones, often recurrent and causing pain. Flank pain or severe abdominal discomfort. Blood in the urine (hematuria). Frequent urinary tract infections. Reduced kidney function or kidney failure in advanced cases. Calcifications or deposits in other tissues such as the eyes, skin, and bones. Growth delays or developmental issues in severe cases.

Diagnosis Path: Urinalysis revealing high levels of oxalate. Blood tests indicating kidney function impairment. Genetic testing to identify mutations in the AGXT gene. Enzymatic assays measuring AGT activity in liver tissue or derived cells. Imaging studies such as ultrasound or CT scans showing kidney stones or calcifications. Histological examination of kidney tissue in certain cases.

Treatment Protocols: High fluid intake to help dilute urine and reduce stone formation. Use of medications such as pyridoxine (vitamin B6), which can sometimes decrease oxalate production in responsive individuals. Potassium citrate to prevent stone formation by alkalizing the urine. Dialysis in cases of kidney failure to remove waste products. Liver transplantation may be considered for severe cases, as the liver is the site of oxalate overproduction. Emerging therapies including RNA interference and gene therapy aim to correct the metabolic defect. Dietary modifications to reduce oxalate intake, though they have limited impact on primary hyperoxaluria.