Fanconi syndrome
Fanconi syndrome is a disease of kidney where an impairment of the proximal tubular function of the kidney in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.
It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome; though, as in the case of Goodpasture’s syndrome, it is customary to name a syndrome after the first person to note a constellation of symptoms as occurring together. It should not be confused with Fanconi anemia, a separate disease.
This syndrome is caused by genetic defects and acquired causes like tetracycline, tenofovir, in the HIV population, antiretroviral regimen, didanosine and lead poisoning.
Fanconi syndrome is characterized by Polyuria, polydipsia and dehydration, hypophosphate Rickets (in children) and osteomalacia (in adults), Growth failure, Acidosis, Hypokalemia, Hyperchloremia, Hypophosphatemia/Phosphaturia, Glycosuria, Proteinuria/Aminoaciduria and Hyperuricosuria.
Fanconi syndrome is diagnosed by taking complete history, lab tests that document the excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations, x-ray and renal biopsy.
Management of Fanconi syndrome mainly consists of the replacement of substances lost in the urine and an electrolyte disturbances .Kidney transplantation has been performed many patients with renal failure due to Fanconi syndrome.
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Filed Under: pediatrics
