Primary Hyperoxaluria Type 1 (PH1) - Urinary System Animation
Primary Hyperoxaluria Type 1 (PH1) - Urinary System Animation

KNOW THE SIGNS OF PH1

Primary hyperoxaluria type 1 (PH1) has heterogeneous clinical manifestations.1 However, if you know what to look for, working towards a diagnosis can be straightforward.2,3

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RECOGNIZING THE SIGNS OF PH1*

PH1 is a heterogeneous disease.1,4 PH1 patients with identical genotypes, and even members of the same family, can have variable disease symptoms.4 At any age, patients may present with one or more of the clinical manifestations below1,5:

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Any kidney stone as a child or adolescent1,6,7

Unusual and/or recurrent stones, including multiple, bilateral, and/or large stones4,6

Nephrocalcinosis1,4,5,7

Progressive kidney function decline of unknown cause that commonly progresses to end-stage kidney disease (ESKD)4,7

Failure to thrive in infancy1

*These are not all the possible signs of PH1

Kidney stones are the most common clinical manifestation and the one that most often leads to a diagnosis of PH1, though not all patients with PH1 may be stone formers.5,8,9 Metabolic testing through 24-hour urine collection analysis is recommended by the American Urological Association (AUA) in high-risk and recurrent stone formers.10

Learn about Testing

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REGARDLESS OF KIDNEY FUNCTION, ACUTE DECLINE CAN OCCUR SUDDENLY11,12

Though the course of PH1 is well characterized, with patients typically advancing toward ESKD, the rate of progression is variable.1,5,13 In some instances, kidney function can decline after a single incident of dehydration due to acute illness or intense physical activity.11,12,14-16 This can occur even in patients with previously stable disease.14

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%50

of PH1 patients may be undiagnosed, although data on prevalence are limited10

5.5YEARS

is the median delay in adults between onset of clinical manifestations and diagnosis15

of diagnoses in adults occur after progression to ESRD4,8,12-14

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PH1 can be life-threatening, often due to complications of ESKD and/or systemic oxalosis1,5

Once the estimated glomerular filtration rate declines to below 30-45 mL/min/1.73 m2, systemic oxalosis can occur because the kidney is unable to excrete oxalate effectively due to excess accumulation of calcium oxalate crystals.5,7

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Diagnose as soon as possible to ensure prompt management.1-3,7,19,20

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AUA PH1 RECOMMENDATIONS

The AUA recommends genetic testing to help confirm a PH1 diagnosis in any patient with urinary oxalate (UOx) excretion exceeding 75 mg/day (0.83 mmol/1.73 m2/day).10,† Genetic testing can identify AGXT gene mutations to help confirm a PH1 diagnosis, regardless of kidney function.3,21

†In adults without bowel dysfunction.

Genetic Testing for PH1

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Watch the Skinner family discuss their daughter Claire’s diagnosis

https://vimeo.com/358271441
Parent of Child With Primary Hyperoxaluria Type 1 (PH1) - PH1 Diagnosis - Video Thumbnail

When their daughter Claire was born, everything seemed normal. Claire’s diagnosis of PH1 came as a shock, and both the Skinners and their physicians were faced with the challenge of learning about and managing her rare disease.

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Child With Primary Hyperoxaluria Type 1 (PH1) and Parent

"On the outside, everybody looks normal. They act normal…but everything with PH1 is really internal, and it's what's going on inside, which most people don't know, and most people don't recognize."

Jared Skinner

Father of Claire, Benson, and Lucy Skinner

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Kidney stones may be a sign of something more serious6

Recurrent kidney stones in an adult or any kidney stone in a child or adolescent could be a sign of a metabolic stone disease like PH1.6,22 Consider these patients for a full work-up and using genetic testing to help confirm PH1.6

PH1 Testing

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