A Case of Cystinosis
Journal of the Korean Pediatric Society
; : 615-619, 2003.
Article
em Ko
| WPRIM
| ID: wpr-91019
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Doenças por Armazenamento dos Lisossomos
/
Cristalização
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Cisteamina
/
Cistina
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Cistinose
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Diagnóstico Precoce
/
Diagnóstico
/
Síndrome de Fanconi
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Leucócitos
/
Lisossomos
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Child
/
Humans
/
Male
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2003
Tipo de documento:
Article