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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Society of Pediatric Endocrinology
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073166/ https://www.ncbi.nlm.nih.gov/pubmed/27777912 http://dx.doi.org/10.6065/apem.2016.21.3.174 |
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author | Ahn, Moon Bae Kim, Sung Eun Cho, Won Kyoung Jung, Min Ho Suh, Byung Kyu |
author_facet | Ahn, Moon Bae Kim, Sung Eun Cho, Won Kyoung Jung, Min Ho Suh, Byung Kyu |
author_sort | Ahn, Moon Bae |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-5073166 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | The Korean Society of Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-50731662016-10-24 Endocrine complications during and after adolescence in a patient with cystinosis Ahn, Moon Bae Kim, Sung Eun Cho, Won Kyoung Jung, Min Ho Suh, Byung Kyu Ann Pediatr Endocrinol Metab Case Report 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. The Korean Society of Pediatric Endocrinology 2016-09 2016-09-30 /pmc/articles/PMC5073166/ /pubmed/27777912 http://dx.doi.org/10.6065/apem.2016.21.3.174 Text en © 2016 Annals of Pediatric Endocrinology & Metabolism http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Ahn, Moon Bae Kim, Sung Eun Cho, Won Kyoung Jung, Min Ho Suh, Byung Kyu Endocrine complications during and after adolescence in a patient with cystinosis |
title | 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_short | Endocrine complications during and after adolescence in a patient with cystinosis |
title_sort | endocrine complications during and after adolescence in a patient with cystinosis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073166/ https://www.ncbi.nlm.nih.gov/pubmed/27777912 http://dx.doi.org/10.6065/apem.2016.21.3.174 |
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