title: Endocrine complications during and after adolescence in a patient with cystinosis.
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.
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors: Moon Bae
authors: MB
authors: Ahn
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors: Sung Eun
authors: SE
authors: Kim
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors: Won Kyoung
authors: WK
authors: Cho
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors: Min Ho
authors: MH
authors: Jung
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors: Byung Kyu
authors: BK
authors: Suh
keywords: Cysteamine; Cystine; Cystinosis; Lysosomal storage diseases