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Primary Hyperoxaluria Type 3.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2015 Sep 24.

Author information

1
Mayo Clinic, Rochester, Minnesota

Excerpt

CLINICAL DESCRIPTION:

Primary hyperoxaluria type 3 (PH3) is characterized by recurring calcium oxalate stones beginning in childhood or adolescence and, on occasion, nephrocalcinosis or reduced kidney function. In 50%-65% of individuals with PH3 stone formation begins prior to age five years. Although the frequency and severity of stone activity often seem to abate by adolescence and adulthood, stone formation can occur throughout life and some adults have many stones. To date systemic oxalosis has not been reported in PH3.

DIAGNOSIS/TESTING:

The diagnosis of PH3 is established in a proband with calcium oxalate kidney stone(s) and/or nephrocalcinosis, urine oxalate >0.7 mmol/1.73 m2/24 hours (in those with preserved kidney function), increased concentration of plasma oxalate (particularly in those with reduced kidney function), and biallelic (homozygous or compound heterozygous) pathogenic variants in HOGA1.

MANAGEMENT:

Treatment of manifestations: Reduction of urine supersaturation of calcium oxalate by maintaining high oral fluid intake at all times and use of an inhibitor of calcium oxalate crystallization such as potassium or sodium citrate; prevention of stone complications by prompt relief of urinary tract obstruction and treatment of urinary tract infections; and avoidance of marked dietary oxalate excess. Prevention of primary manifestations: Same as Treatment of manifestations. Surveillance: For those who are stable, annual clinical assessment of: stone-related symptoms (pain), frequency of passage of urinary stones and/or gravel, urinary tract infection; adherence to high fluid intake and medication schedule; annual: assessment of kidney function by serum creatinine, measurement of plasma oxalate concentration in those with impaired renal function, 24-hour urine oxalate and supersaturation study, and renal ultrasound examination or other imaging to monitor for stone formation. Agents/circumstances to avoid: Intravascular volume contraction, delays in treatment of acute stone episodes, marked dietary oxalate excess, high-dose ascorbic acid, and nephrotoxic agents. Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in relatives at risk to reduce stone formation and the risk of nephrocalcinosis and chronic kidney disease. Pregnancy management: Adequate fluid intake throughout the pregnancy.

GENETIC COUNSELING:

PH3 is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the HOGA1 pathogenic variants in the family are known.

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