| A Case of Cystinosis |
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Min Ho Jung, Seung On Keun, Soon Ju Lee, Byung Churl Lee |
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Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea |
| 시스틴증(Cystinosis) 1례 |
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정민호, 근승언, 이순주, 이병철 |
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가톨릭대학교 의과대학 소아과학교실 |
Correspondence:
Byung Churl Lee, Email: byungcl@catholic.ac.kr
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| Abstract |
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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. |
| Key Words:
Cystinosis, Cystine, Lysosomal storage disease, Growth retardation |
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