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Başlık: Endocrine dysfunctions in patients with inherited metabolic diseases
Yazarlar: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Metabolizma Bilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Pediatrik Metabolizma ve Endokrinoloji Bilim Dalı.
0000-0003-0710-5422
0000-0003-4402-9609
Erdöl, Şahin
Sağlam, Halil
C-7392-2019
54419947800
35612700100
Anahtar kelimeler: Endocrinology & metabolism
Pediatrics
Inherited
Metabolic diseases
Endocrine dysfunction
Children
Mitochondrial-DNA deletion
Kearns-sayre-syndrome
Diabetes-mellitus
Adrenal insufficiency
Child
Aceruloplasminemia
Identification
Yayın Tarihi: 8-Mar-2016
Yayıncı: Galenos Yayıncılık
Atıf: Erdöl, S. ve Sağlam, H. (2016). "Endocrine dysfunctions in patients with inherited metabolic diseases". Journal of Clinical Research in Pediatric Endocrinology, 8(3), 330-333.
Özet: Objective: Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. The aim of this study was to investigate endocrine dysfunctions in patients with IMDs by assessing their demographic, clinical, and laboratory data. Methods: Data were obtained retrospectively from the medical reports of patients with IMDs who were followed by the division of pediatric metabolism and nutrition between June 2011 and November 2013. Results: In total, 260 patients [139 males (53%) and 121 females (47%)] with an IMD diagnosis were included in the study. The mean age of the patients was 5.94 (range; 0.08 to 49) years and 95.8% (249 of 260 patients) were in the pediatric age group. Growth status was evaluated in 258 patients and of them, 27 (10.5%) had growth failure, all cases of which were attributed to non-endocrine reasons. There was a significant correlation between growth failure and serum albumin levels below 3.5 g/ dL (p= 0.002). Only three of 260 (1.1%) patients had endocrine dysfunction. Of these, one with lecithin-cholesterol acyltransferase deficiency and another with Kearns-Sayre syndrome had diabetes, and one with glycerol kinase deficiency had glucocorticoid deficiency. Conclusion: Endocrine dysfunction in patients with IMDs is relatively rare. For this reason, there is no need to conduct routine endocrine evaluations in most patients with IMDs unless a careful and detailed history and a physical examination point to an endocrine dysfunction.
URI: https://doi.org/10.4274/jcrpe.2288
https://cms.galenos.com.tr/Uploads/Article_1653/JCRPE-8-330.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096498/
http://hdl.handle.net/11452/33838
ISSN: 1308-5727
1308-5735
Koleksiyonlarda Görünür:Scopus
TrDizin
Web of Science

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