Cysteamine Therapy for Children with Nephropathic Cystinosis

William A. Gahl, George F. Reed, Jess G. Thoene, Joseph D. Schulman, William B. Rizzo, Adam J. Jonas, Daniel W. Denman, James J. Schlesselman, Brian J. Corden, Jerry A. Schneider

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263 Scopus citations


We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day) for up to 73 months. This agent is known to be effective in depleting cells of cystine. In our study, the mean cystine depletion from leukocytes was 82 percent. A historical control group of 55 children received either ascorbic acid (27 children) or placebo (28). At age six, 2 of 17 controls had a serum creatinine level less than 1.0 mg per deciliter, as compared with 17 of 27 patients treated with cysteamine for at least one year (odds ratio, 12.8; 95 percent confidence interval, 2.1 to 33.9). At the end of the study, creatinine clearance was higher in the cysteamine group than in the control group (38.5 vs. 29.7 ml per minute per 1.73 m2; 95 percent confidence limits on the difference, 1.8 and 15.8), even though the cysteamine group was on average 1.4 years older than the control group. Cysteamine also improved growth; those in the cysteamine group between two and three years of age grew at 93 percent of the normal velocity, as compared with 54 percent in the control group. Fourteen percent of the patients could not tolerate the taste and smell of cysteamine. Concurrent controls treated in a blinded fashion with a placebo were not included in this study. With this limitation in mind, we conclude that oral cysteamine, by depleting cells of cystine, helps maintain renal glomerular function, improves growth, and constitutes the current treatment of choice for nephropathic cystinosis. (N Engl J Med 1987; 316:971–7.), NEPHROPATHIC cystinosis, a rare autosomal recessive disorder, results from cystine accumulation within the lysosomes of various cell types.1,2 The clinical manifestations include the onset of the renal Fanconi syndrome near the end of the first year of life, with dehydration, acidosis, or hypophosphatemic rickets as the presenting symptom.3 Glomerular dysfunction gradually supervenes, with kidney failure usually occurring by the age of 10. Severe growth retardation, photophobia, hepatosplenomegaly, hypohidrosis,4 hypothyroidism, retinal depigmentation, and secondary carnitine deficiency in muscular tissue5 attest to the multisystem involvement of this disease. Replacement of fluids, electrolytes, and other essential small molecules will relieve symptoms. Once renal…

Original languageEnglish (US)
Pages (from-to)971-977
Number of pages7
JournalNew England Journal of Medicine
Issue number16
StatePublished - Apr 16 1987
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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