Definition

What is Fanconi syndrome?

Fanconi syndrome is a rare disorder of kidney tubule function that results in excess amounts of glucose, bicarbonate, phosphates (phosphorus salts), uric acid, potassium, and certain amino acids being excreted in the urine.

Fanconi syndrome can be primary (inherited) or secondary (acquired).

How common is Fanconi syndrome?

This condition is rather rare. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Fanconi syndrome?

In hereditary Fanconi syndrome, symptoms of excessive drinking and excessive urination usually begin during infancy.

A child with Fanconi syndrome and cystinosis may have failure to thrive, slowed growth, and chronic kidney disease. Kidney failure may require a kidney transplant during childhood.

In adults, symptoms may not develop until the disorder has been present for some time. The most common symptoms in adults include weakness and bone pain.

Most often, some damage to bones or kidney tissue has occurred before the diagnosis is made.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Fanconi syndrome?

Fanconi syndrome may be hereditary or may be caused by:

  • Exposure to certain drugs (including some chemotherapy and antiretroviral drugs)
  • Exposure to heavy metals or other chemicals
  • Vitamin D deficiency
  • Kidney transplantation
  • Multiple myeloma
  • Amyloidosis

Risk factors

What increases my risk for Fanconi syndrome?

Fanconi syndrome usually occurs with another hereditary disorder, such as cystinosis. Cystinosis is an inherited disorder of amino acid metabolism characterized by abnormal deposits of the amino acid cystine throughout the body and abnormal concentrations of cystine in the urine. Abnormal cystine deposits cause eye disorders, an enlarged liver, and an underactive thyroid gland.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Fanconi syndrome diagnosed?

Blood and urine tests

The symptoms and a test that shows abnormalities in the blood (such as a high level of acid) or urine (such as a high level of glucose) may lead a doctor to suspect Fanconi syndrome. The diagnosis is confirmed when high levels of glucose (despite a normal blood glucose), phosphates, and amino acids are detected in the urine.

How is Fanconi syndrome treated?

Drinking sodium bicarbonate

Fanconi syndrome cannot be cured, but it can be controlled with proper treatment. Effective treatment can keep the damage to bones and kidney tissue from getting worse and in some cases correct it. The high acid level of the blood (acidosis) may be neutralized by drinking sodium bicarbonate. People with low potassium levels in the blood may need to take potassium supplements by mouth.

Bone disease requires treatment with phosphates and vitamin D supplements given by mouth.

Kidney transplantation may be lifesaving if a child with the disorder develops kidney failure, but if cystinosis is the underlying disease, progressive damage may continue in other organs and eventually result in death.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Fanconi syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: April 11, 2018 | Last Modified: April 11, 2018

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