General Information About Fanconi Syndrome
Disease Details and Frequently Asked Questions
It is a malabsorption disorder where the microscopic tubes in the kidneys called tubules fail to do their job, resulting in water, glucose, phosphate, and amino acids—which are necessary for the body—being lost through the urine.
The disease can be caused by congenital genetic mutations (e.g., cystinosis); it can also develop later due to exposure to heavy metals, certain cancer drugs, or the use of expired antibiotics (tetracycline).
In children, it involves growth retardation, bone curving and weakness (rickets), excessive urination (polyuria), constant thirst, muscle weakness, and the blood chemistry becoming acidic.
No, although the names are very similar, they are different diseases. Fanconi anemia is a blood disorder that causes bone marrow failure; whereas Fanconi syndrome is a kidney dysfunction.
It is diagnosed by low phosphate and potassium levels in blood tests, and by the presence of sugar (glucose) and amino acids in urinalysis despite the blood sugar being normal.
There is no drug that completely eliminates the disease. The primary treatment is the replacement of the sodium, potassium, phosphate, and bicarbonate lost in the urine via intravenous or oral routes, and the administration of vitamin D for bone health.
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