Friday, December 4, 2009

- Fanconi's syndrome.

"Fanconi's syndromes"

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

-Primary type
  • 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.

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

No comments:

Post a Comment

Nice to see your comment here........