TREATMENT OF CYSTINOSIS WITH A DIET POOR IN CYSTINE AND METHIONINE

Two siblings with cystinosis are presented. Case 1, a 16-month-old boy, presented with a severe renal tubular insufficiency. Case 2, a 7-year-old girl, was a dwarf with both glomerular and tubular renal insufficiency. Case 1 was initially treated with high doses of vitamin D₂ and electrolyte supplements for more than 2 months without significant alteration of the condition. Thereafter he was treated for 23 days with 150 mg penicillamine per day again without any significant clinical or biochemical improvement. Both patients were then followed through 1 year on treatment with a diet poor in cystine and methionine supplemented with cholinechloride, an anabolic steroid, high doses of vitamin D₂, electrolytes, oral iron and a combined vitamin preparation. After some time there was considerable difficulty in giving the patients sufficient amounts of the diet, consequently the diet had to be modified with supplement of cow's milk. On this treatment case 1 attained a distinct clinical improvement with healed rickets and normal growth. There was no evidence of mobilisation of the stored cystine. Case 2 obtained a healing of the rickets and some gain in height during the treatment, but otherwise the general condition was unaltered, and she continued to have increasing renal glomerular insufficiency.