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.
(See also Introduction to Disorders of Kidney Tubules.)
Fanconi syndrome is unrelated to—and should not be confused with—Fanconi anemia.
Fanconi syndrome may be hereditary or may be caused by
Exposure to certain medications (including some chemotherapy agents and antiretroviral medicines)
Exposure to heavy metals or other chemicals
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.
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.
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
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. Early diagnosis and treatment can improve the chance that the child will attain a normal height. The high acid level of the blood (acidosis
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
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): Provides insight into ongoing research, consumer health information in English and Spanish, a blog, and community health and outreach programs.
