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Fanconi Syndrome

Last updated Sept. 11, 2018

Approved by: Maulik P. Purohit MD, MPH

Fanconi Syndrome is a disorder affecting certain kidney filtration tubes (the proximal renal tubes) that causes vital nutrients and minerals to be leached out of the body through urine, instead of being reabsorbed into the bloodstream.

What are the other Names for this Condition? (Also known as/Synonyms)

  • Adult Fanconi Syndrome
  • Congenital Fanconi Syndrome (Disorder)
  • Glycogen Storage Disease XI caused by Fanconi Syndrome

What is Fanconi Syndrome? (Definition/Background Information)

  • Fanconi Syndrome is a disorder affecting certain kidney filtration tubes (the proximal renal tubes) that causes vital nutrients and minerals to be leached out of the body through urine, instead of being reabsorbed into the bloodstream
  • Some of the important substances that get drained out of the body include glucose, uric acid, amino acids, phosphates, and bicarbonates. The subsequent loss causes various deficiency-related defects, retarded growth, and could even be potentially fatal
  • Fanconi Syndrome is either an inherited or acquired abnormality; the condition being acquired due to usage of certain drugs, heavy metals, or other medical conditions. Currently, there are no methods available to prevent the inherited form of this abnormality
  • It is a difficult and complicated condition that needs urgent and active treatment administration. The prognosis of Fanconi Syndrome is dependent upon many factors that include the severity of the condition, the quantum of loss of nutrients and minerals, and whether the syndrome is acquired or inherited

Who gets Fanconi Syndrome? (Age and Sex Distribution)

  • One type of Fanconi Syndrome is inherited; newborns are born with the condition, or it is typically seen during childhood. The acquired form of Fanconi Syndrome can occur at any age
  • One type of Fanconi Syndrome, known as Infantile Nephropathic Cystinosis, is predominantly noticed among the Caucasians
  • No other race, ethnic, or gender preferences are known to be associated with the other types of the Fanconi Syndrome

What are the Risk Factors for Fanconi Syndrome? (Predisposing Factors)

The risk factors of Fanconi Syndrome include:

  • Certain types of Fanconi Syndrome runs in the family; children born in families with a history of the condition are at a serious risk
  • Lowe’s disease, Wilson’s disease, exposure to heavy metals (mercury, cadmium, lead), are all risk factors in children
  • Certain drugs (antibiotics), multiple myeloma, primary amyloidosis, renal transplant, light chain deposition disease, are all risk factors in adults
  • Any disease, disorder, or injury that damages the kidneys can be a risk factor

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Fanconi Syndrome? (Etiology)

Causal factors of Fanconi Syndrome could include:

  • One type of Fanconi Syndrome is caused by inheriting an autosomal recessive pattern. Most often, this is caused due to a lysosomal storage disorder, named cystinosis (which commonly causes the condition in children)
  • There are many other genetically-inherited disorders that are responsible for this renal condition. These include Wilson’s disease, Lowe’s disease, glycogen storage disorders, galactosemia, hereditary fructose intolerance, etc.
  • Acquired Fanconi Syndrome causative factors are those factors that disrupt the normal functioning of the kidneys. These include:
    • Drug side effects (like use of outdated antibiotics, antiretroviral medications for HIV), especially when the kidneys are already impaired
    • Poisoning by heavy metals
    • Multiple myeloma, and many other factors

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Fanconi Syndrome?

Signs and symptoms of Fanconi Syndrome are:

  • Dehydration due to increased urination; increased thirst
  • Presence of glucose, phosphates, and protein, in urine
  • Adults suffer from osteomalacia, children from rickets, due to low levels of blood phosphorus (a condition known as hypophosphatemia)
  • Retarded growth
  • Reduced levels of potassium, increased chlorine levels
  • Excessive quantities of acid in body fluids and in blood
  • Fatigue and weakness
  • Pain in the bones

How is Fanconi Syndrome Diagnosed?

Diagnostic tests for detecting Fanconi Syndrome may include:

  • Physical examination with evaluation of (family) medical history
  • Due to the loss of the vital chemicals and minerals, certain physical findings may reveal health conditions such as, dehydration, rickets, osteomalacia, growth delays/failure, etc. These are correlated with urine analysis to confirm the disorder
  • Urine tests to determine the presence of amino acids, glucose, minerals (magnesium, potassium, sodium, and phosphate), bicarbonate, and uric acid
  • X-rays and CT scans to assess growth abnormalities in children

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Fanconi Syndrome?

Complications that develop due to of Fanconi Syndrome include:

  • Kidney failure that may be severe and chronic, due to excess accumulation of the amino acid cystine
  • End-stage kidney disease, necessitating a kidney transplant
  • Liver failure, due to Wilson disease
  • Physical and mental growth developmental delays, speech problems
  • Eye-related disorders, such as cataract and glaucoma
  • Secondary diseases, chronic infections due to undernourishment, weak body and muscle condition
  • Strong side effects of certain medications

How is Fanconi Syndrome Treated?

Fanconi Syndrome is a difficult and complicated condition that needs urgent and active treatment administration. Proper care with symptomatic treatment (with surgical intervention, if necessary), and a healthy lifestyle can help manage the disorder to a certain degree; all contingent upon the intensity of the disorder, age of the patient, and the individuals response to treatment.

Fanconi Syndrome treatment measures may include:

  • The treatment measures in children address the most critical problem, which is the loss of important body-building substances in urine and the damage that occurs to the kidneys. Since Fanconi Syndrome can manifest itself immediately after birth, rapid and intense methods are required to effectively control its harmful and fatal effects
  • Excessive depletion of fluids leading to dehydration is treated using intravenous (or oral) replacement of the liquids
  • Potassium supplements and diuretics are used to help regulate urine flow
  • Modifications to the diet and a recommendation of dietary supplements (for all the lost minerals and vitamins) may avert malnourishment and other potential health problems
  • In case of a liver failure, liver transplants are beneficial. This also helps renal abnormalities to a certain extent
  • Since the kidney filtration system is affected and causes excessive discharge of acids and alkalis; kidney transplantation is a treatment option
  • During this period, dialysis is used as an interim support for the lost kidney function and waste and excess water is removed from the urine

How can Fanconi Syndrome be Prevented?

  • Inherited type of Fanconi Syndrome manifests itself shortly after birth; the condition cannot be prevented
  • Acquired forms of Fanconi Syndrome can be prevented, if one is aware of the risk factors and these are avoided

What is the Prognosis of Fanconi Syndrome? (Outcomes/Resolutions)

  • Fanconi Syndrome is an acute disorder of the kidneys, with many secondary manifestations
  • The prognosis is based on many factors, such as the severity of the condition, health of the kidneys, and depletion of vital minerals and nutrients
  • Acquired forms of Fanconi Syndrome have better outcomes than inherited forms of Fanconi Syndrome, because they make for difficult management

Additional and Relevant Useful Information for Fanconi Syndrome:

The genetic disorder cystinosis is the most common causative factor for the pediatric form of Fanconi Syndrome. The amino acid cystine gets accumulated within the cells to abnormal levels; cystinosis is a lysosomal or lipid storage disease.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 10, 2014
Last updated: Sept. 11, 2018