Primary hyperoxaluria
ICD-10 E72.53 is a billable code used to indicate a diagnosis of primary hyperoxaluria.
Primary hyperoxaluria is a rare genetic metabolic disorder characterized by excessive production of oxalate, leading to the formation of calcium oxalate crystals in the kidneys, urinary tract, and other tissues. This condition is primarily caused by deficiencies in specific enzymes involved in glyoxylate metabolism, particularly alanine-glyoxylate aminotransferase (AGT) in type 1, glyoxylate reductase/hydroxypyruvate reductase (GRHPR) in type 2, and lactate dehydrogenase A (LDHA) in type 3. The accumulation of oxalate can result in kidney stones, nephrocalcinosis, and ultimately renal failure if left untreated. Patients may present with symptoms such as flank pain, hematuria, and recurrent urinary tract infections. Diagnosis typically involves biochemical testing to measure oxalate levels in urine and plasma, as well as genetic testing to confirm the specific enzyme deficiency. Management strategies include hydration, dietary modifications to reduce oxalate intake, and in severe cases, renal replacement therapy or liver transplantation to correct the underlying metabolic defect.
Detailed renal function tests, imaging studies, and history of kidney stones.
Patients presenting with recurrent kidney stones or renal failure.
Ensure documentation reflects the metabolic nature of the condition and any renal complications.
Genetic testing results, family history, and metabolic evaluations.
Patients with a family history of kidney stones or unexplained renal failure.
Document the specific genetic mutations identified and their implications for treatment.
Used when confirming a diagnosis of primary hyperoxaluria through genetic analysis.
Document the necessity of genetic testing based on clinical presentation and family history.
Genetic specialists should ensure comprehensive family history is included.
Primary hyperoxaluria is primarily caused by genetic deficiencies in enzymes responsible for oxalate metabolism, leading to excessive oxalate production.
