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Cystinosis

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Abstract

Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. The disease is caused by mutations in the CTNS gene (17p13.2) encoding lysosomal cystine transporter cystinosin. Patients with the most common and severe infantile form of cystinosis (MIM #219800) manifest during the first year of life with failure to thrive, dehydration or rickets due to renal Fanconi syndrome. The diagnosis of cystinosis is based on measuring elevated cystine levels in peripheral white blood cells. Corneal cystine crystals causing photophobia are pathognomonic for the disease and are detected in all patients starting from 1.5 years. Untreated cystinosis patients develop end stage renal disease by the age of 10 years. Longer survival of patients with cystinosis due to the advances of renal replacement therapy revealed extra-renal organ involvement including eyes, thyroid, pancreas, gonads, central and peripheral nervous system and muscles. The cystine depleting drug cysteamine dramatically improved renal and extra-renal organ survival in cystinosis and remains the cornerstone of the therapy. The drug should be administered promptly after making the diagnosis and continued life-long, in awaiting for new potentially curative therapies that are currently being investigated.

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Notes

  1. 1.

    Cystinosis; https://cystinosis.patientcrossroads.org/. 2014.

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Authors and Affiliations

  1. Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium

    Elena Levtchenko

  2. Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Leo Monnens

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  1. Elena Levtchenko
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  1. Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada

    Denis F. Geary

  2. Division of Pediatric Nephrology, University of Heidelberg, Heidelberg, Germany

    Franz Schaefer

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Levtchenko, E., Monnens, L. (2016). Cystinosis. In: Geary, D., Schaefer, F. (eds) Pediatric Kidney Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52972-0_40

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