Ahn Moon Bae, Kim Sung Eun, Cho Won Kyoung, Jung Min Ho, Suh Byung Kyu
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2016 Sep;21(3):174-178. doi: 10.6065/apem.2016.21.3.174. Epub 2016 Sep 30.
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.
胱氨酸病是一种罕见疾病，其特征是由于溶酶体转运受损导致溶酶体中胱氨酸异常蓄积。我们之前报道了韩国首例胱氨酸病病例，患者为一名12岁男孩，有身材矮小、全身无力和畏光症状。诊断基于眼科检查结果和生化分析（血清白细胞胱氨酸测量）得以证实。诊断时的主要内分泌表现包括甲状腺功能减退、生长发育迟缓以及性腺功能减退。尽管给予了口服半胱胺治疗和肾脏替代治疗，但在青春期期间及之后仍出现了包括内分泌和非内分泌疾病在内的多种并发症。在本报告中，我们回顾了一名胱氨酸病患者的临床表现特征以及与长期并发症相关的因素。
