Fanconi Syndrome
The function of the kidney is to filter blood, keeping or reabsorbing necessary nutrients, and excreting the excess or waste in urine. Fanconi syndrome is a disorder of the kidney in which substances that are normally filtered and absorbed into the blood stream are excreted into the urine.
Loss of these important nutrients may lead excessive acidity in the blood and multiple problems that may include:
- Dehydration
- Rickets
- Bone softening
- Stunted growth
- Renal tubular acidosis or overly acidic blood
Causes of Fanconi Syndrome
Fanconi Syndrome may be caused by several genetic disorders which may include:
- Dent's Disease
- Tyrosinemia
- Fructose intolerance
- Glucose storage diseases
- Cystinosis - most commonly in children
- Wilson's disease
- Lowe Syndrome
Other non-genetic causes for Fanconi Syndrome may include exposure to certain metals or toxins, use of certain medications such as tetracyclines, azathioprine, gentamicin, or cidofovir, and kidney damage associated with a kidney transplant or multiple myeloma.
Symptoms of Fanconi Syndrome
Depending on the underlying cause, the symptoms of Fanconi Syndrome can vary and may include:
- Excessive urine production
- Dehydration
- Bone Pain
- Weakness
Diagnosis of Fanconi Syndrome
Fanconi Syndrome is diagnosed by a physical examination by a doctor and a full review of symptoms. Tests that confirm the diagnosis of Fanconi Syndrome may include:
- Blood tests
- Urinalysis
Treatment of Fanconi Syndrome
Most cases of Fanconi Syndrome are addressed by treating the underlying cause, especially in genetic disorders. Medications such as antacids may help to lower the level of acidity in the blood and nutritional supplements may help to replace loss nutrients. Some cases of Fanconi Syndrome, especially those caused by a kidney transplant or exposure to metals or toxins, can be reversed. About a year after the transplant, Fanconi Syndrome normally subsides. Patients who discontinue exposure to the afflicting metals or toxins can also reverse the disorder.
Prevention of Fanconi Syndrome
Not all cases of Fanconi Syndrome can be prevented, especially those caused by genetic disorders. However, limiting exposure to certain metals or toxins and avoiding certain medications, may help to prevent a possible onset of the disease.