- Fanconi's syndrome.

"Fanconi's syndromes"

* There are many types of Fanconi's syndrome according to
etiology :-

-Primary type

-Hereditary:-

• Abderhalden-Kaufmann-Lignac syndrome "cystinosis" (click here).
• Oculo-cerebro-renal Syndrome (Lowe's Syndrome) (click here).
• Galactosemia.
• Wilson disease.

-Drug induced:-

• Out dated tetracycline.
• Cyclosporin.
• Heavy metals (e.g lead poisoning).

*Fanconi's syndrome ( primary type)*

-Def:- it is an autosomal recessive disorder due to multiple defects in proximal renal tubules which decrease the urinary re-absorption of phosphate,bicarbonate,glucose, amino acids and may be Potassium ( they all are lost in urine).

-It is named after Guido Fanconi, a Swiss pediatrician.

-Clinical picture:-

• Rickets(in children).
  
• Osteomalacia (in adults).
• Metabolic acidosis.
  
• Vomiting ( due to acidosis).
• Polyuria and polydepsia.
• Episodes of fever and dehydration.
• Muscle weakness and constipation.
• Growth retardation.

-Investigation:-

• Ph (decrease).
• Ca++ (Normal).
• Alkaline phosphatase (increased).
• increase urinary phosphate,bicarbonate,glucose, amino acids and may be Potassium.

-Treatment:-

• Oral phosphate 1-3 gm/day divided into 5 doses.
• Vitamin D: 2000 IU/day.
• Sodium bicarbonate tablets or Sodium citrate and Potassium citrate syrup for metabolic acidosis.
• Potassium chloride 2-3 mEq/kg/day for cases of hypokalemia.
  

Return to list of medical syndromes here