Endocrine complications during and after adolescence in a patient with cystinosis
Annals of Pediatric Endocrinology & Metabolism
;
: 174-178, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-59858
ABSTRACT
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence. In this report, we review the presenting features and factors related to the long-term complications in a patient with cystinosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doenças por Armazenamento dos Lisossomos
/
Terapia de Substituição Renal
/
Fotofobia
/
Cisteamina
/
Cistina
/
Cistinose
/
Doenças Raras
/
Diagnóstico
/
Hipogonadismo
/
Hipotireoidismo
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Criança
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2016
Tipo de documento:
Artigo
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