Which are the symptoms of Primary Hyperoxaluria?

Primary Hyperoxaluria is a rare genetic disorder that affects the body's ability to metabolize a substance called oxalate. Oxalate is normally produced as a byproduct of metabolism and is excreted through the kidneys. However, individuals with primary hyperoxaluria have a defect in the liver enzyme responsible for breaking down oxalate, leading to its accumulation in the body.

The excessive buildup of oxalate can result in the formation of kidney stones, which are hard deposits that can cause severe pain and discomfort. Kidney stones are one of the hallmark symptoms of primary hyperoxaluria and often occur at a young age, even in childhood. These stones can vary in size and may obstruct the urinary tract, leading to urinary symptoms such as frequent urination, urgency, and blood in the urine.

Aside from kidney stones, primary hyperoxaluria can also cause kidney damage over time. The accumulation of oxalate in the kidneys can lead to the formation of crystals within the renal tubules, which can impair kidney function. As a result, individuals with primary hyperoxaluria may experience symptoms of chronic kidney disease such as fatigue, weakness, decreased appetite, and swelling in the legs.

In some cases, primary hyperoxaluria can also affect other organs besides the kidneys. The excess oxalate can be deposited in various tissues throughout the body, leading to a condition called systemic oxalosis. This can cause a range of symptoms depending on the organs affected. For example, oxalate deposits in the eyes can lead to vision problems, while deposits in the heart can cause cardiac abnormalities.

It is important to note that the severity and progression of symptoms can vary among individuals with primary hyperoxaluria. Some individuals may experience mild symptoms and have a relatively stable condition, while others may have more severe symptoms and rapidly progressing kidney damage.

Early diagnosis and treatment are crucial in managing primary hyperoxaluria. Genetic testing can confirm the diagnosis, and treatment options may include medications to reduce oxalate production, dietary modifications to limit oxalate intake, and in severe cases, liver or kidney transplantation.

In summary, the symptoms of primary hyperoxaluria include:

• Kidney stones


• Urinary symptoms (frequent urination, urgency, blood in urine)


• Kidney damage and chronic kidney disease symptoms (fatigue, weakness, decreased appetite, leg swelling)


• Systemic oxalosis with organ-specific symptoms (e.g., vision problems, cardiac abnormalities)