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Improved renal function in children with cystinosis treated with cysteamine
T C Markello1, I M Bernardini, W A Gahl
1Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md. 20892.
The New England Journal of Medicine
|April 22, 1993
Summary
Early and adequate cysteamine therapy preserves kidney function in children with cystinosis, preventing renal failure and maintaining normal creatinine clearance decline. Late or partial treatment shows less benefit.
Area of Science:
- Nephrology
- Pediatric Nephrology
- Genetics and Inherited Diseases
Background:
- Cystinosis is a lysosomal storage disease leading to kidney failure around age 10.
- Oral cysteamine therapy is known to help preserve kidney function, but its exact renal benefits require further study.
Purpose of the Study:
- To determine the extent of renal benefit from oral cysteamine therapy in children with cystinosis.
- To compare renal function outcomes in children with cystinosis receiving adequate, partial, or no cysteamine treatment.
Main Methods:
- Retrospective analysis of 24-hour creatinine clearances in 76 children with cystinosis treated between 1960 and 1992.
- Categorization of patients into three groups: adequate cysteamine treatment (early initiation, leukocyte cystine depletion), partial treatment (poor compliance or later initiation), and no cysteamine treatment.
- Longitudinal follow-up of renal function (creatinine clearance) in relation to age and treatment status.
Main Results:
- Children receiving adequate cysteamine therapy showed no renal failure, with mean creatinine clearance of 57 +/- 20 ml/min/1.73 m2 at 8.3 +/- 3.8 years.
- Children with no cysteamine treatment experienced renal failure by a mean age of 8.3 +/- 1.9 years, with mean creatinine clearance of 8.0 +/- 4.8 ml/min/1.73 m2.
- Adequate cysteamine treatment led to predicted renal clearance reaching 0 at age 74, compared to age 20 with partial treatment and age 10 with no treatment.
Conclusions:
- Early and adequate cysteamine treatment in children with cystinosis results in improved renal function that stabilizes and then declines at a normal rate.
- Delayed or inconsistent cysteamine therapy is associated with poorer renal outcomes.
- These findings underscore the critical importance of timely and consistent cysteamine administration for managing cystinosis and preserving kidney health.