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Fanconi syndrome

Fanconi syndrome (also known as Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in improper reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, and phosphate. It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome. more...

Fabry's disease
Factor V Leiden mutation
Factor VIII deficiency
Fallot tetralogy
Familial adenomatous...
Familial Mediterranean fever
Familial periodic paralysis
Familial polyposis
Fanconi syndrome
Fanconi's anemia
Farber's disease
Fatal familial insomnia
Fatty liver
Febrile seizure
Fibrodysplasia ossificans...
Fibrous dysplasia
Fissured tongue
Fitz-Hugh-Curtis syndrome
Flesh eating bacteria
Focal dystonia
Foix-Alajouanine syndrome
Follicular lymphoma
Fountain syndrome
Fragile X syndrome
Fraser syndrome
FRAXA syndrome
Friedreich's ataxia
Frontotemporal dementia
Fructose intolerance

It should not be confused with Fanconi anemia, a separate disease.


Symptoms of Fanconi syndrome include:

  • Polyuria, polydipsia and dehydration
  • Rickets (in children) and osteomalacia (in adults)
  • Growth failure
  • Proteinuria
  • Hypokalemia
  • Hypophosphatemia
  • Acidosis
  • Hidradenitis suppurativa


There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired. Cystinosis is the most common cause of Fanconi syndrome in children; however, it is possible to acquire this disease later on in life. It is still being studied by the National Institutes of Health. Other recognised causes of Fanconi's syndrome are Wilson's disease (a genetically inherited condition of copper metabolism), fructose intolerance and Sjogren's disease (an autoimmune disorder)


Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and electrolytes). Dialysis is often required; however, this is complicated by the fact that unlike renal failure, Fanconi Syndrome is not the same thing as the death of the kidneys. This often leads to unnecessary organ transplants when the patient is treated by a nephrologist who is unfamiliar with Fanconi syndrome.


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Renal tubular acidosis
From Gale Encyclopedia of Medicine, 4/6/01 by J. Ricker Polsdorfer


Renal tubular acidosis (RTA) is a condition characterized by too much acid in the body due to a defect in kidney function.


Chemical balance is critical to the body's functioning. Therefore, the body controls its chemicals very strictly. The acid-base balance must be between a pH of 7.35 and 7.45 or trouble will start. Every other chemical in the body is affected by the acid-base balance. The most important chemicals in this system are sodium, chloride, potassium, calcium, ammonium, carbon dioxide, oxygen, and phosphates.

The lungs rapidly adjust acid-base balance by the speed of breathing, because carbon dioxide dissolved in water is an acid--carbonic acid. Faster breathing eliminates more carbon dioxide, decreases the carbonic acid in the blood and increases the pH. Holding your breath does the opposite. Blood acidity from carbon dioxide controls the rate of breathing, not oxygen.

The kidneys also regulate acid-base balance somewhat more slowly than the lungs. They handle all the chemicals, often trading one for another that is more or less acidic. The trading takes place between the blood and the urine, so that extra chemicals end up passing out of the body. If the kidneys do not effectively eliminate acid, it builds up in the blood, leading to a condition called metabolic acidosis. These conditions are called renal tubular acidosis.

Causes & symptoms

There are three types of renal tubular acidosis. They include:

  • Distal renal tubular acidosis (type 1) may be a hereditary condition or may be triggered by an autoimmune disease, lithium therapy, kidney transplantation, or chronic obstruction.
  • Proximal renal tubular acidosis (type 2) is caused by hereditary diseases, such as Fanconi's syndrome, fructose intolerance, and Lowe's syndrome. It can also develop with vitamin D deficiency, kidney transplantation, heavy metal poisoning, and treatment with certain drugs.
  • Type 4 renal tubular acidosis is not hereditary, but is associated with diabetes mellitus, sickle cell anemia, an autoimmune disease, or an obstructed urinary tract.

Symptoms vary with the underlying mechanism of the defect and the readjustment of chemicals required to compensate for the defect.

  • Distal RTA results in high blood acidity and low blood potassium levels. Symptoms include mild dehydration; muscle weakness or paralysis (due to potassium deficiency); kidney stones (due to excess calcium in the urine); and bone fragility and pain.
  • Proximal RTA also results in high blood acidity and low blood potassium levels. Symptoms include mild dehydration.
  • Type 4 RTA is characterized by high blood acidity and high blood potassium levels; it rarely causes symptoms unless potassium levels rise so high as to cause heart arrhythmias or muscle paralysis.


RTA is suspected when a person has certain symptoms indicative of the disease or when routine tests show high blood acid levels and low blood potassium levels. From there, more testing of blood and urine chemicals will help determine the type of RTA present.


The foundation of treatment for RTA types 1 and 2 is replacement of alkali (base) by drinking a bicarbonate solution daily. Potassium may also have to be replaced, and other chemicals added to maintain balance. In type 4 RTA acidity will normalize if potassium is reduced. This is done by changing the diet and by using diuretic medicines that promote potassium excretion in the urine.


Careful balancing of body chemicals will usually produce good results. If there is an underlying disease responsible for the kidney malfunction, it may be the determining factor in the prognosis.


Relatives of patients with the possibly hereditary forms of renal tubular acidosis should be tested.

Key Terms

Autoimmune disease
Type of diseases characterized by antibodies that attack the body's own tissues.
Fanconi's syndrome
A disorder of the kidneys characterized by glucose in the urine.
Lowe's syndrome
A rare inherited disorder that is distinguished by congenital cataracts, glaucoma, and severe mental retardation.
A deficiency disease that effects the bone development of growing bodies, usually causing soft bones.

Further Reading

For Your Information


  • Chesney, Russell W. "Specific Renal Tubular Disorders." In Cecil Textbook of Medicine. Edited by J. Claude Bennett and Fred Plum. Philadelphia: W. B. Saunders, 1996.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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