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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Main Authors:	Ahn, Moon Bae, Kim, Sung Eun, Cho, Won Kyoung, Jung, Min Ho, Suh, Byung Kyu
Format:	Online
Language:	English
Published:	The Korean Society of Pediatric Endocrinology 2016
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073166/

id	pubmed-5073166
recordtype	oai_dc
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 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.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Ahn, Moon Bae Kim, Sung Eun Cho, Won Kyoung Jung, Min Ho Suh, Byung Kyu
spellingShingle	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
author_facet	Ahn, Moon Bae Kim, Sung Eun Cho, Won Kyoung Jung, Min Ho Suh, Byung Kyu
author_sort	Ahn, Moon Bae
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
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.
publisher	The Korean Society of Pediatric Endocrinology
publishDate	2016
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073166/
_version_	1613691760110731264

Endocrine complications during and after adolescence in a patient with cystinosis

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