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Fanconi Syndrome

What is Fanconi's Syndrome ?  

It is a disease of the kidney, in which the proximal renal tubules allow the glucose, amino acids, uric acid, phosphate and bicarbonate to pass through instead of reabsorption. Proximal tubule is the area that the fluid travels after it is filtered through the glomerulus, for reabsorption of the essential substances and nutrients.

Cause(s) :  Genetic, certain drugs, exposure to heavy metals

Inherited causes of Fanconi’s syndrome
  • Cystinosis
  • Wilson’s disease
  • Lowe syndrome
  • Tyrosinemia type 1
  • Galactosemia
  • Glycogen storage diseases
  • Hereditary fructose intolerance

Acquired causes:
  • Intake of expired tetracyclines
  • Side effects of tenofovir
  • Lead poisoning
  • Multiple myeloma
Symptoms :  
  • Excessive urination (polyuria)
  • Excess thirst (polydipsia)
  • Dehydration
  • Hypophosphatemic rickets in children (due to lack of phosphate)
  • Osteomalacia in adults (due to lack of phosphate)
  • Growth failure
  • Excess uric acid in urine

Lack of reabsorption of nutrients may cause problems in levels of blood content:
  • Hypophosphatemia (lack of phosphate)
  • Hypokalemia (lack of potassium)
  • Hyperchloremia (excess of chloride)
  • Acidosis (increased acidity in blood)

Excess secretion of the following in urine:
  • Glycosuria (excess glucose in urine)
  • Proteinuria (excess protein in urine)
  • Hyperuricosuria (excess uric acid)
  • Phosphaturia (excess phosphate in urine)
Diagnosis and Tests :  
  • Laboratory tests
  • Physical Examination
  • Urine tests for proteinuria, hypokalemia, hypophosphatemia, metabolic acidosis
Category :  Congenital Conditions

Specialist to consult :  Urology

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