A Case of Cystinosis
Journal of the Korean Pediatric Society
;
: 615-619, 2003.
Artículo
en Coreano
| WPRIM
| ID: wpr-91019
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedades por Almacenamiento Lisosomal
/
Cristalización
/
Cisteamina
/
Cistina
/
Cistinosis
/
Diagnóstico Precoz
/
Diagnóstico
/
Síndrome de Fanconi
/
Leucocitos
/
Lisosomas
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
2003
Tipo del documento:
Artículo
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