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Alternative Names Return to topDe Toni-Fanconi syndrome
Definition Return to top
Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.
Causes Return to top
Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown.
Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as:
Cystinosis is the most common cause of Fanconi syndrome in children.
Other causes in children include:
In adults, Fanconi syndrome can be caused by various things that damage the kidneys, including:
Symptoms Return to top
Exams and Tests Return to top
Laboratory tests may show that excess amounts of the following substances may be lost in the urine:
Loss of these substances can lead to a variety of problems. Further tests and a physical exam may show signs of:
Treatment Return to top
Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate.
Outlook (Prognosis) Return to top
The prognosis depends on the underlying disease.
When to Contact a Medical Professional Return to top
Call your health care provider if you have dehydration or muscle weakness.
References Return to top
Seifter JL. Potassium disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 118.Update Date: 11/10/2008 Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.