Hyperoxaluria and oxalosis

Hyperoxaluria is usually a genetic disorder which is inherited from the parents and is present at the time of birth. It indicates the presence of too much of oxalate in the urine, Oxalate is a natural chemical required by your body and is found in certain foods. However, an excess of oxalate in urine can cause serious problems.

Oxalosis is a metabolic disorder which occurs due to the inability of the kidneys to efficiently eliminate the calcium oxalate crystals through urine, out of the body. Consequently, the oxalate crystals accumulate in other parts of the body such as in eyes, heart, muscles, blood, blood vessels, etc.

Symptoms

The main sign of hyperoxaluria is the formation of kidney stones due to which the following symptoms occur:

  • Chills and fever
  • Pain during urination
  • Frequent urination or the urge to urinate
  • Blood in urine
  • Severe and sudden back pain
  • Persistent flank pain (i.e. a pain in the back below the area of the ribs)

In the case of oxalosis, the first indications are blood in urine, urinary tract obstruction and the painful passage of kidney stones. The other signs and symptoms are:

  • Nausea
  • Vomiting
  • Abdominal pain
  • Protein in urine
  • Tetany

Advanced stages of the condition can lead to bone diseases due to the accumulation of the crystals in the bones and joints. Anemia and skin ulcers are also possible.

Self-management

The below measures can be beneficial for the patient during the treatment.

  • Large Fluid Consumption: Drinking large quantities of fluids helps in the normal functioning of the kidneys and flushes out the kidney stones.
  • Dietary changes: Lowered oxalate diet, limited salt intake, decreased animal protein and sugar can help in lowering the oxalate in urine.

Causes and Risk factors

The primary cause for hyperoxaluria is the inheritance of the certain genes. As a result, the liver does not produce the enzyme required to maintain a balance in the oxalate levels. This leads to an increase in the calcium oxalate crystals which form kidney stones and damage the kidney.

Hyperoxaluria can also occur with excess intake of oxalate through foods. Certain intestinal diseases such as Crohn's disease and short bowel syndrome which result from surgeries increase the absorption of oxalate from the foods.

Oxalosis occurs mainly due to kidney failure in patients with Type I and Type II hyperoxaluria.

Complications

Hyperoxaluria

If hyperoxaluria is not treated, it can lead to the kidney damage and eventually kidney failure. This causes a reduced or no urine output, loss of appetite, anemia, swelling of hands and feet, etc.

Oxalosis

As oxalosis progresses, it can lead to complications related to the other body parts such as skin ulcers, bone diseases, heart and eye problems, and poor growth in children.

To safeguard the health of the kidneys for long-term, hyperoxaluria needs to be diagnosed in the early stage. Oxalosis becomes progressively severe and can even lead to the death of the person. Therefore, a prompt diagnosis is of prime importance for better treatment.

Upon taking medical history and conducting a physical examination, your doctor orders for the below tests:

Test type Purpose of the test
Urine tests To measures the levels of oxalate and its metabolites
Blood tests To determine oxalate levels and to know the kidney functioning
Stone analysis To know the composition of the kidney stones
Kidney X-ray, ultrasound, and CT scan To check for the presence of any deposited calcium oxalate crystals and kidney stones

Further testing is done to confirm the diagnosis and check for the affect of the disease on the other parts of the body.

  • DNA testing: to look for the presence of hyperoxaluria associated genes
  • Kidney biopsy: to look for oxalate deposits
  • Eye examination, echocardiography, and bone marrow biopsy: to check if the oxalate deposits are present in the respective body parts
  • Liver biopsy: may rarely be performed to look for deficiency in the related enzymes

Treatment of oxalosis is based on the stage of the condition and the age of the child. It usually involves a combination of treatments as below:

  • Medications: Phosphate and citrate oral preparations help in preventing the formation of calcium oxalate crystals. Thiazide diuretics may also be prescribed
  • Magnesium supplements
  • Large daily doses of Vitamin B6
  • Urinary tract endoscopy
  • Dialysis: If there is a loss of kidney function, dialysis can be a temporary solution
  • Kidney transplant or Kidney-liver transplant: They helps in curing certain inherited forms of hyperoxaluria
  • Artificial kidney machine