Objective Cystinosis is a rare a disease presented initially with renal Fanconi syndrome, and renal glomerular failure develops later in childhood. Without cysteamine treatment, patients affected with cystinosis uniformly died during childhood in the absence of renal replacement therapy (RRT). Cysteamine is not available here and in some other areas of the world. The aim of this paper is to describe a beneficial effect of acacia gum in a patient with cystinosis and chronic renal failure.
Method 9-year-old girl with cystinosis presented with symptomatic uremia as she didn’t receive cysteamine. Serum creatinine 7.4 mg/dl, blood urea 200 mg/dl. The girl was hospitalized and vomiting controlled with intravenous fluid and pyridoxine. Chronic dialysis was not available for her and the parents refused treatment with intermittent acute peritoneal dialysis. The girl was treated with a new therapeutic regimen (Therapy 2006;3(2):321) combining the traditional conservative management of CRF (dietary and pharmacologic) with addition of acacia gum (AG) 25 g/day as a urea lowering agent aiming at improving her condition without dialysis.
Results Treatment was associated with amelioration of the uremic symptoms and improved general well being. After 2 weeks of treatment serum creatinine was 1.9 mg/dl, blood urea 69 mg/dl. During 4 months of follow-up she continued in experiencing improved well being and urea levels was kept below 70 mg/dl without dialysis.
Conclusion It was possible to improve the health of patient with cystinosis despite the non-availability of cysteamine and the appropriate RRT.