Fanconi's Syndrome
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Fanconi's syndrome is a rare disorder of kidney tubule function that results in excess amounts of glucose, bicarbonate, phosphates, uric acid, potassium, and certain amino acids being excreted in the urine.
This rare disorder is caused by:
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Exposure to certain drugs (including some chemotherapy and antiretroviral drugs).
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Exposure to heavy metals or other chemicals.
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Vitamin D deficiency.
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Kidney transplantation.
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It usually occurs with another hereditary disorder, such as cystinosis (Cystinosis is an inherited disorder of amino acid metabolism).
Fanconi's syndrome is symptomized by:
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Excessive urination (polyuria)
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Excessive thirst (polydipsia)
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Reduced appetite
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Weight loss
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Lethargy
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Poor body condition.
Treatment:
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Normalization of serum phosphate levels may be achieved by administering 1-3 g/day of supplemental phosphate.
- Administration should start at the lower level and be slowly increased over several weeks to minimize GI symptoms.
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Vitamin D, administered as 1,25-dihydroxyvitamin D3 or 1a-hydroxyvitamin D3, is preferred because liver and/or renal hydroxylation may be impaired in patients with Fanconi syndrome.
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The losses of glucose, amino acids, and uric acid are not usually symptomatic and do not require replacement.
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Recently, carnitine supplementation has been tried in an attempt to increase muscle strength; however, results have been mixed.
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Metabolic acidosis due to the loss of bicarbonate is corrected by the administration of alkali, usually 3-10 mg/kg/d of sodium bicarbonate in divided doses.
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Addition of a diuretic, such as 1-3 mg/kg/day of hydrochlorothiazide, may be necessary to avoid volume expansion.
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You always need to consult your GP.