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Fanconi Syndrome

By

L. Aimee Hechanova

, MD, Texas Tech University Health Sciences Center, El Paso

Last full review/revision Nov 2020| Content last modified Nov 2020
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Topic Resources

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 is unrelated to—and should not be confused with—Fanconi anemia.

Fanconi syndrome may be hereditary or may be caused by

Fanconi syndrome usually occurs with another hereditary disorder, such as cystinosis. Cystinosis is an inherited disorder of amino acid metabolism Overview of Amino Acid Metabolism Disorders Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. In most... read more 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.

Symptoms of Fanconi Syndrome

Diagnosis of Fanconi Syndrome

  • 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.

Treatment of Fanconi Syndrome

  • 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 Kidney Transplantation Kidney transplantation is the removal of a healthy kidney from a living or recently deceased person and then its transfer into a person with end-stage kidney failure. (See also Overview of Transplantation... read more 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.

More Information about Fanconi Syndrome

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

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