Monday, December 7, 2009

- Abderhalden-Kaufmann-Lignac syndrome.

"Abderhalden-Kaufmann-Lignac syndrome"


-Def:- it is an autosomal recessive disorder involving deposits of cystine crystals in lysosomes of liver,spleen,bone marrow,cornea, and renal tubules due to abnormal metabolism of cystine .

-Incidence :- 1 : 100,000- 1 :200,000.

-It is the most common cause of Fanconi syndrome in the pediatric age group.

-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.
  • Photo-phobia.
  • hepatosplenomegally.

  • Detect Cysteine crystals in conjunctiva , cornea and WBCs.
  • Ph (decrease).
  • Ca++ (Normal).
  • Alkaline phosphatase (increased).
  • increase urinary phosphate,bicarbonate,glucose, amino acids and may be Potassium.
  • Cysteamine oral and eye drops.
  • 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........