Warning Signs of
Primary Hyperoxaluria

Warning signs

Patient warning signs can include one or a combination of the symptoms listed below1-7:

A single kidney stone in children or recurring kidney stones in adults should cause suspicion of primary hyperoxaluria (PH).

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The warning signs for primary hyperoxaluria could include a single kidney stone in children, recurring kidney stones in adults, recurring urinary tract infections in children, or a family history of kidney stones, among other symptoms. The warning signs for primary hyperoxaluria could include a single kidney stone in children, recurring kidney stones in adults, recurring urinary tract infections in children, or a family history of kidney stones, among other symptoms.
Family history of kidney or bladder stones
Family history of kidney or bladder stones

Many patients are asymptomatic for years, with 18% to 21% of people with primary hyperoxaluria being diagnosed by familial screening before they show any symptoms.4,5

A single pediatric kidney stone
A single pediatric kidney stone

Children should not develop bladder or kidney stones, and the presence of even a single kidney stone in an infant or child should immediately raise suspicion of a genetic condition like primary hyperoxaluria.2,10

Recurring kidney stones in adults
Recurring kidney stones in adults

A single kidney stone in an adult is not uncommon, but recurring kidney stones can be indications of an underlying metabolic disorder or genetic disease. Recurrent UTIs, flank pain, and blood in the urine are often the first signs of kidney stones. Pediatric kidney stones can also present with vomiting and fever.2,10-12

Chronic kidney disease (CKD) with unknown etiology
Chronic kidney disease (CKD) with unknown etiology

Suspect primary hyperoxaluria when a patient presents with reduced renal function combined with nephrocalcinosis or a high occurrence of kidney stones.1,9,13

Nephrocalcinosis
Nephrocalcinosis

Both pediatric and adult patients with early signs of nephrocalcinosis should be screened for primary hyperoxaluria.2,10

Systemic oxalosis
Systemic oxalosis

Renal failure can be the first clinical indication of primary hyperoxaluria in some patients, even in infancy. When patients are in renal failure, calcium oxalate can deposit in tissues throughout the body.9,14

Signs of systemic oxalosis include the following14,15:

  • Stunted bone growth
  • Recurrent low-trauma fractures
  • Bone deformations with osteodystrophy
  • Anemia 
  • Severe bone pain
  • Skin nodules and ulcers
  • Cardiomyopathy
  • Cardiac conduction disturbances and heart block
  • Retinopathy and visual impairment

Failure to thrive, ESRD, severe retinal abnormalities or vision loss in infants
Failure to thrive, ESRD, severe retinal abnormalities or vision loss in infants

Infantile onset occurs in 18% of patients with PH1. Infants with this severe form present with end-stage renal disease, failure to thrive, severe retinal abnormalities, and vision loss during their first year.3,6,7,16

End-stage renal disease (ESRD)
End-stage renal disease (ESRD)

Many people are not diagnosed with PH until they are in ESRD (35% of all patients with PH1 and 11% of patients with PH2), although these patients often had earlier symptoms that went unrecognized, such as recurring kidney stones. 59% to 70% of people diagnosed with PH1 as adults are in ESRD at the time of diagnosis.3,5,17,18

Understanding PH

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