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...

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

Symptoms

Symptoms of Fanconi syndrome include:

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

Causes

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

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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