Endocrine complications during and after adolescence in a patient with cystinosis
Annals of Pediatric Endocrinology & Metabolism
; : 174-178, 2016.
Article
de En
| WPRIM
| ID: wpr-59858
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Maladies lysosomiales
/
Traitement substitutif de l'insuffisance rénale
/
Photophobie
/
Mercaptamine
/
Cystine
/
Cystinose
/
Maladies rares
/
Diagnostic
/
Hypogonadisme
/
Hypothyroïdie
Type d'étude:
Diagnostic_studies
Limites du sujet:
Adolescent
/
Child
/
Humans
/
Male
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Annals of Pediatric Endocrinology & Metabolism
Année:
2016
Type:
Article