Claire, diagnosed with PH1
What Are The Symptoms Of PH1?
People with PH1 often experience the formation of oxalate stones throughout the urinary tract and kidneys.
When a person with PH1 has a kidney stone, symptoms can include:
- Flank pain
- Painful urination
- Urinary tract infections
- Blood in the urine
Some individuals are not diagnosed until after their kidneys have failed and they require dialysis to help filter waste products from the blood.
Ph1 Inside The Body
Disease Onset & Progression
Patients can be diagnosed with PH1 at any age, but most individuals experience their first symptoms in early childhood.
For many patients, PH1 is not diagnosed immediately. Since kidney stones in adults are more commonplace, adult patients with PH1 often spend many years undiagnosed until they present with severe kidney disease.
As PH1 progresses, it often results in end-stage renal disease, a life-threatening condition that prevents the kidneys from filtering fluids and waste from the body effectively.
Consequently, the build-up of oxalate can lead to the deposition of oxalate crystals in the eyes, bones, skin, heart, and central nervous system, causing diminished vision, bone fractures, ulcers, heart failure, and other complications.
PH1 Manifestations by Stage of Life
Understanding PH1: One family’s story
Three of Jared and Natalie’s four children were born with PH1. Hear from Claire and Benson about what it’s like to live with this rare inherited disorder.
The Skinners – Living with Primary Hyperoxaluria Type 1 (PH1)
References
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Edvardsson VO, Goldfarb DS, Lieske JC, et al. Hereditary causes of kidney stones and chronic kidney disease. Peadiatr Nephrol. 2013;28:1923-1942.
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Milliner DS, Harris PC, Cogal AG, Lieske JC. Primary hyperoxaluria type 1. GeneReviews, University of Washington, Seattle. 1993-2018.
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Lorenz EC, Michet CJ, Milliner DS, Lieske JC. Update on oxalate crystal disease. Curr Rheumatol Rep. 2013;7:340.
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Zhao F, Bergstralh EJ, Mehta RA, et al. Predictors of incident ESRD among patients with primary hyperoxaluria presenting prior to kidney failure. Clin J Am Soc Nephrol. 2016;11:119-126.
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Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009;75:1264-1271.
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Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant. 1885;10(Suppl 8):3-7.
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Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013,369:649-658.
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Harambat J, Fargue S, Acquaviva C, et al. Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77:443–449.
