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Pediatric Nephrology
Published in: Pediatric Nephrology 6/2015

01-06-2015 | Original Article

Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy

Authors: Galina Nesterova, Caitlyn Williams, Isa Bernardini, William A. Gahl

Published in: Pediatric Nephrology | Issue 6/2015

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Abstract

Background and objectives

Nephropathic cystinosis is a lysosomal storage disorder characterized by renal tubular Fanconi syndrome in infancy and glomerular damage leading to renal failure at ∼10 years of age. Therapy with the cystine-depleting agent cysteamine postpones renal failure, but the degree of compliance with this treatment has not been correlated with preservation of kidney function.

Methods

We assessed leucocyte cystine depletion by cysteamine and created the composite compliance score that incorporates the extent of leucocyte cystine depletion, as well as duration of cysteamine treatment, into a single integer. Age at renal failure was used to gauge preservation of renal function, and the Fanconi syndrome index (FSI), a measure of aminoaciduria, was used to assess renal tubular Fanconi syndrome.

Results

Age at renal failure varied directly and linearly with the composite compliance score (y = 0.3x +8.8; R2 = 0.61). The slope indicated that for every year of excellent cystine depletion, nearly 1 year of renal function was preserved. Age at renal failure correlated roughly with mean leucocyte cystine level, but not with mean cysteamine dosage. There was no correlation between the FSI and the composite compliance score.

Conclusions

Greater compliance with oral cysteamine therapy yields greater preservation of renal glomerular, but not tubular, function. Oral cysteamine therapy should be given at the maximum tolerated dose, within the recommended limits.
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Metadata
Title
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy
Authors
Galina Nesterova
Caitlyn Williams
Isa Bernardini
William A. Gahl
Publication date
01-06-2015
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 6/2015
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-014-3018-x

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