All issues > Volume 46(6); 2003

Case Report

J Korean Pediatr Soc. 2003;46(6):615-619. Published online June 15, 2003.

A Case of Cystinosis

Min Ho MH Jung¹, Seung On SO Keun¹, Soon Ju SJ Lee¹, Byung Churl BC Lee¹

¹Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence Byung Churl BC Lee ,Email: byungcl@catholic.ac.kr

Abstract

Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues, causing growth retardation, Fanconi syndrome, renal failure, eye problems, and endocrinopathies. The gene for cystinosis, CTNS, was mapped to chromosome 17p13. The diagnosis of cystinosis was made by measuring the leukocyte cystine content. The presence of typical corneal crystals on slit-lamp examination is also diagnostic. Since treatment with cysteamine has proved extremely effective, early diagnosis and treatment are critical aspects. We experienced a typical case of cystinosis in a 12-year-old boy with growth retardation.

Keywords :Cystinosis, Cystine, Lysosomal storage disease, Growth retardation