Fanconi SyndromeSymptoms, Doctors, Treatments, Advances & More
Fanconi Syndrome Overview
Learn About Fanconi Syndrome
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 variations that affect the body's ability to break down certain compounds such as:
- Cystine (cystinosis)
- Fructose (fructose intolerance)
- Galactose (galactosemia)
- Glycogen (glycogen storage disease)
Cystinosis is the most common cause of Fanconi syndrome in children.
Other causes in children include:
- Exposure to heavy metals such as lead, mercury, or cadmium
- Lowe syndrome, a rare genetic disorder of the eyes, brain, and kidneys
- Wilson disease
- Dent disease, a rare genetic disorder of the kidneys
In adults, Fanconi syndrome can be caused by various things that damage the kidneys, including:
- Certain medicines, including azathioprine, cidofovir, gentamicin, and tetracycline
- Kidney transplant
- Light chain deposition disease
- Multiple myeloma
- Primary amyloidosis
Symptoms include:
- Passing large amounts of urine, which can lead to dehydration
- Excessive thirst
- Severe bone pain
- Fractures due to bone weakness
- Muscle weakness
Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate.
Elena Levtchenko practices practicing medicine in Leuven, Belgium. Ms. Levtchenko is rated as an Elite expert by MediFind in the treatment of Fanconi Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Cystinosis, Fanconi Bickel Syndrome, Fanconi Syndrome, Hypophosphatemia, and Kidney Transplant.
Detlef Bockenhauer practices practicing medicine in London, United Kingdom. Bockenhauer is rated as an Elite expert by MediFind in the treatment of Fanconi Syndrome. They are also highly rated in 40 other conditions, according to our data. Their clinical expertise encompasses Fanconi Syndrome, Fanconi Bickel Syndrome, Aminoaciduria, Osteotomy, and Lithotripsy.
Robert Kleta practices practicing medicine in London, United Kingdom. Mr. Kleta is rated as an Elite expert by MediFind in the treatment of Fanconi Syndrome. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Aminoaciduria, Fanconi Syndrome, Fanconi Bickel Syndrome, and Renal Hypomagnesemia Type 2.
The prognosis depends on the underlying disease.
Contact your health care provider if you have dehydration or muscle weakness.
Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC). These cancers usually appear first in the mouth, esophagus, and genital and anal areas. Early detection of SCCs may help improve survival rates for people with FA.
Summary: The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with Glycogen Storage Disease Types Ia, Ib and XI. To determine this, patient's will have a one-time planned admission to Connecticut Children's for approximately 8 hours and rece...
Published Date: March 31, 2024
Published By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.
Chua AN, Kumar R, Foreman JW. Fanconi syndrome and other proximal tubule disorders. In: Johnson RJ, Floege J, Tonelli M, eds. Comprehensive Clinical Nephrology. 7th ed. Philadelphia, PA: Elsevier; 2024:chap 50.