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Primary hyperoxaluria type 1 (PH1)
Primary hyperoxaluria is a rare, inherited disease that causes the overproduction of oxalate
Prevalence
Age of Onset
ICD-10
E74.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function
FACT
Common symptoms include the urolithiasis, nephrolithiasis, and progressive nephrocalcinosis
FACT
PH type I is the most severe and most common of the three types - it is estimated to account for 70 to 80% of all diagnosed PH patients
FACT
Up to 50% of adults are diagnosed following progression to end-stage kidney disease (ESKD)
FACT
Chronic, recurrent stone formation and the accumulation of calcium oxalate in kidney tissue can cause chronic kidney disease, which can ultimately progress to kidney failure
Interest over time
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Common signs & symptoms
Abnormality of circulating enzyme level
Anemia
Low number of red blood cells or hemoglobin
Calcinosis
Calcium buildup in soft tissues of body
Nephrolithiasis
Kidney stones
Hyperoxaluria
High urine oxalate levels
Metabolic acidosis
Nephrocalcinosis
Too much calcium deposited in kidneys
Current treatments
The goal of treatment for primary hyperoxaluria type 1 (PH1) is to minimize calcium oxalate deposition and maintain renal function. Early diagnosis and prompt therapy is critical to preserve the function of the kidneys for as long as possible.
General therapies for preventing kidney stones benefit all people with PH1. Recommendations for this include: