Oxalosis

Also known as Primary Oxaluria, oxalosis is a rare metabolic disorder characterized by recurrent kidney and bladder stones. It is caused by an overproduction of oxalate, which is usually filtered through the kidneys and excreted in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria).

Over time, the kidneys can no longer filter the excessive oxalate, allowing the oxalate to crystallize (stones) in the kidneys and other parts of the body, particularly in the bones and blood vessel walls.

Symptoms usually start with blood in the urine and urinary tract obstruction with stones. These will usually be accompanied by nausea, vomiting, and abdominal pain. Urinalysis, ultrasound, radiologic imaging, and tissue sampling can help confirm the diagnosis.

Treatment involves a combination of approaches including increased fluid intake, supplementation with vitamin B6 and magnesium, and a reduction in oxalate intake. Dialysis and ultimately, a transplant may be necessary.