Learn About Fanconi Syndrome

What is the definition of 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.

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What are the alternative names for Fanconi Syndrome?

De Toni-Fanconi-Debré syndrome

What are the causes of Fanconi 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:

  • 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
What are the symptoms of Fanconi Syndrome?

Symptoms include:

  • Passing large amounts of urine, which can lead to dehydration
  • Excessive thirst
  • Severe bone pain
  • Fractures due to bone weakness
  • Muscle weakness
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What are the current treatments for Fanconi Syndrome?

Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate.

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What is the outlook (prognosis) for Fanconi Syndrome?

The prognosis depends on the underlying disease.

When should I contact a medical professional for Fanconi Syndrome?

Contact your health care provider if you have dehydration or muscle weakness.

Kidney anatomy
What are the latest Fanconi Syndrome Clinical Trials?
A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations

Summary: This phase II trial studies how well olaparib works in treating patients with biliary tract cancer that has spread to other places in the body (metastatic) and with aberrant DNA repair gene mutations. Olaparib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.

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Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study

Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...

What are the Latest Advances for Fanconi Syndrome?
Rickets guidance: part II-management.
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Who are the sources who wrote this article ?

Published Date: January 25, 2022
Published By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. 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.

What are the references for this article ?

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.

Foreman JW. Fanconi syndrome and other proximal tubule disorders. In: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Comprehensive Clinical Nephrology. 6th ed. Philadelphia, PA: Elsevier; 2019:chap 48.