- Abderhalden-Kaufmann-Lignac syndrome.

"Abderhalden-Kaufmann-Lignac syndrome"

"cystinosis"

-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.

-Investigation:-

• 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.

-Treatment:-

• 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.
  

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