Fanconi Syndrome

Symptoms, Doctors, Treatments, Advances & More

Condition 101 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.

What are the alternative names for Fanconi Syndrome?

De Toni-Fanconi-Debré syndrome

What are the causes for 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 for 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

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.

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?

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



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.

Top Global Doctors For Fanconi Syndrome

Latest Advances On Fanconi Syndrome

Latest Advance
  • Condition: Human Immunodeficciency Virus-1 (HIV-1)
  • Journal: The journal of the Royal College of Physicians of Edinburgh
  • Treatment Used: Tenofovir Disoproxil Fumarate (TDF)
  • Number of Patients: 0
  • Published —
This case report describes a 50-year-old HIV-positive male on tenofovir diagnosed with proximal renal tubular acidosis and fracture of left neck of femur four years after initiation of the drug.

Clinical Trials For Fanconi Syndrome

Clinical Trial
  • Status: Recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 36
  • Start Date: June 9, 2020
A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Other
  • Participants: 50
  • Start Date: April 5, 2019
A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.