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.
De Toni-Fanconi-Debré syndrome
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:
Exams and Tests
Laboratory tests may show that too much 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:
Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate.
The prognosis depends on the underlying disease.
When to Contact a Medical Professional
Call your health care provider if you have dehydration or muscle weakness.
Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner and Rector's The Kidney. 10th ed. Philadelphia, PA: Elsevier; 2016:chap 45.
Foreman JW. Fanconi syndrome and other proximal tubule disorders. In: Johnson RJ, Feehally J, Floege J, eds. Comprehensive Clinical Nephrology. 5th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 50.
Review Date: 1/19/2018
Reviewed By: Richard LoCicero, MD, private practice specializing in hematology and medical oncology, Longstreet Cancer Center, Gainesville, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.