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Fanconi syndrome: Treatment, symptoms, advice and help

About fanconi syndrome

Fanconi syndrome is a disorder of the kidneys characterised by disruption of the tubular function. The tubules of kidneys are microscopic structures which function as re-absorption site from where the important nutrients like glucose, potassium, sodium and others are reabsorbed back into the blood and remaining fluid passed down the tubules to be excreted as urine.

Fanconi syndrome results in disruption of this tubular function causing failure of re-absorption of significant nutrients, thereby resulting in their excess excretion in urine. This syndrome can either be hereditary or acquired later on in life.

Fanconi syndrome: Incidence, age and sex

Fanconi syndrome is a rare disorder which is not commonly encountered in general population. There seems to be no gender bias. It may affect an individual at any age, depending upon the underlying cause. Fanconi syndrome, if inherited, usually presents with symptoms in the first year of life. Alternatively, fanconi syndrome may be acquired due to certain factors, usually get exhibited later in life.

Signs and symptoms of fanconi syndrome: Diagnosis

The clinical features of fanconi syndrome are variable and non-specific. An individual with Fanconi syndrome manifests with excessive urination coupled with increased thirst. Loss of significant nutrients like vitamin D, phosphate salts may cause weakening of bones which is exhibited by persistent pain in the bones of the body. Features like fatigue and weakness may also be seen. The children afflicted with fanconi syndrome may exhibit features of growth failure.

This disorder can be diagnosed by microscopic examination of urine which shows presence of various nutrients like glucose, potassium, sodium, phosphate salts, bicarbonates and amino acids in excess. This excess loss of nutrients can also be confirmed by estimating them in blood test which characteristically shows metabolic acidosis.

Causes and prevention of fanconi syndrome

Fanconi syndrome can result from several causes which may either be inherited or acquired later in life. Certain genetic disorders like cystinosis and glycogen storage disease may lead to Fanconi syndrome. Sometimes disorders like amyloidosis or multiple myeloma can damage the kidneys, resulting in this disorder. Occasionally, drugs like tetracycline and gentamicin or even kidney transplant, may lead to Fanconi syndrome in some individuals.

Fanconi syndrome: Complications

The complications of fanconi syndrome may vary from mild to severe. Loss of fluids and nutrients may result in dehydration which can be effectively managed. Children with fanconi syndrome exhibit failure to thrive and delayed physical milestones. Weakening of bones resulting in osteomalacia and rickets is also commonly noted in affected kids. In severe and longstanding instances, the affected individual may exhibit kidney failure.

Fanconi syndrome: Treatment

Unfortunately, fanconi syndrome is an incurable condition. However it can be effectively controlled with proper evaluation and supplement therapy. The first and foremost step is to evaluate the underlying cause of fanconi syndrome, which should be immediately managed. Dehydration if present should also be treated adequately, especially in children. The affected individual should be given supplements of potassium, phosphates, vitamin D and fluids to manage the deficiency.

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