Endocrine complications during and after adolescence in a patient with cystinosis
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 b...
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Korean Society of Pediatric Endocrinology
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doaj-bb90d93bfaf44b15a7750489c02c70402020-11-24T23:39:55ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922016-09-0121317417810.6065/apem.2016.21.3.174629Endocrine complications during and after adolescence in a patient with cystinosisMoon Bae Ahn0Sung Eun Kim1Won Kyoung Cho2Min Ho Jung3Byung Kyu Suh4Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.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.http://e-apem.org/upload/pdf/apem-21-174.pdfCystinosisCystineCysteamineLysosomal storage diseases |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Moon Bae Ahn Sung Eun Kim Won Kyoung Cho Min Ho Jung Byung Kyu Suh |
spellingShingle |
Moon Bae Ahn Sung Eun Kim Won Kyoung Cho Min Ho Jung Byung Kyu Suh Endocrine complications during and after adolescence in a patient with cystinosis Annals of Pediatric Endocrinology & Metabolism Cystinosis Cystine Cysteamine Lysosomal storage diseases |
author_facet |
Moon Bae Ahn Sung Eun Kim Won Kyoung Cho Min Ho Jung Byung Kyu Suh |
author_sort |
Moon Bae Ahn |
title |
Endocrine complications during and after adolescence in a patient with cystinosis |
title_short |
Endocrine complications during and after adolescence in a patient with cystinosis |
title_full |
Endocrine complications during and after adolescence in a patient with cystinosis |
title_fullStr |
Endocrine complications during and after adolescence in a patient with cystinosis |
title_full_unstemmed |
Endocrine complications during and after adolescence in a patient with cystinosis |
title_sort |
endocrine complications during and after adolescence in a patient with cystinosis |
publisher |
Korean Society of Pediatric Endocrinology |
series |
Annals of Pediatric Endocrinology & Metabolism |
issn |
2287-1012 2287-1292 |
publishDate |
2016-09-01 |
description |
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. |
topic |
Cystinosis Cystine Cysteamine Lysosomal storage diseases |
url |
http://e-apem.org/upload/pdf/apem-21-174.pdf |
work_keys_str_mv |
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