Kalıtsal metabolik hastalığı olan olgularda endokrinolojik bozukluklar
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Date
2014
Authors
Erdöl, Şahin
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Kalıtsal metabolik hastalıklar (KMH) tüm sistemleri olduğu gibi endokrin sistemi de etkileyebilirler. Bu konuda erişkinlerde sınırlı sayıda çalışma mevcutken pediatrik yaş grubunda bu alanda henüz veri mevcut değildir. Bu çalışmanın amacı çocuk metabolizma polikliniğinden takip edilen ve KMH tanısı almış olan olguların demografik, klinik ve laboratuvar verilerini değerlendirerek endokrinolojik problemlerinin ortaya konmasıdır. Veriler, Haziran 2011 ile Kasım 2013 tarihleri arasında Uludağ Üniversitesi Tıp Fakültesi Çocuk Metabolizma ve Beslenme Bilim Dalı'nda KMH tanısıyla takip edilen olguların dosyalarından geriye dönük olarak elde edildi. KMH tanısı almış 139'u erkek (%53), 121'i kız (%47) toplam 260 hasta çalışmaya alındı. Olguların yaş ortalaması 5,94 (aralık: 0,08-49) yıl olup %95,8'ini (249/260) pediatrik yaş grubu oluşturmaktaydı. Ana ve alt hastalık grupları arasında cinsiyet ve yaş açısından anlamlı fark yoktu. Olguların anne ve babalarında akraba evliliği varlığı ve kardeşlerde benzer hastalık olması anlamlı bulundu. Olguların %25'inde kardeşinde benzer hastalık mevcuttu. Büyüme geriliği açısından değerlendirilebilen 258 olgunun 27'sinde (%10,5) büyüme geriliği mevcut olup tamamı endokrin dışı nedenlerden kaynaklanmaktaydı. Serum albümin düzeyinin 3,5 g/dL'nin altında olması ile büyüme geriliği varlığı arasında anlamlı ilişki saptandı (p=0,002). Tüm olguların %10'unda mikrosefali mevcut olup serum albümin düzeyinin 3,5 g/dL'nin altında olması ile mikrosefali varlığı arasında anlamlı ilişki saptandı (p=0,020). Benzer şekilde, serum albümin düzeyinin 3,5 g/dL'nin altında olması ile nöromotor gerilik varlığı arasında anlamlı ilişki saptandı (p<0,001). Olguların sadece 3'ünde (%1,1) endokrin bozukluk saptanmış olup lesitin kolesterol asil transferaz eksikliği ve Kearns-Sayre Sendromlu birer olguda diyabet, gliserol kinaz eksikliği olan bir olguda ise glukokortikoid eksikliği mevcuttu. KMH'lı olgularda endokrin bozukluklar nispeten nadirdir. Bu nedenle ayrıntılı bir öyküyle birlikte büyüme eğrilerini ve puberte değerlendirmesini de içeren bir fizik muayene endokrin bir bozukluğa işaret etmedikçe KMH'lı olguların çoğunda rutin endokrinolojik değerlendirmeye gerek yoktur.
Endocrine Dysfunctions in Patient with Inherited Metabolic Diseases Inherited metabolic diseases (IMD) can affect many organ systems including endocrine system. Though there are limited data regarding endocrine dysfunctions related to IMD in adults, no data exists in pediatric patients with IMD. The aim of this study was to investigate endocrine dysfunctions in patient with IMD by assessing their demographic, clinical and laboratory data. Data were obtained retrospectively from the medical reports of the patients with IMD, who were followed in the Division of Pediatric Metabolism and Nutrition between June 2011 and November 2013. A total of 260 patients [139 males (53%) and 121 females (47%)] with the diagnosis of IMD 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. There was no statistically significant difference between main and subgroups of the diseases with respect to the age and gender. Presence of consanguinity and similar diseases in siblings were found to be significant. History of similar diseases was present in 25% of the patients. Growth status was evaluated in 258 patients and of them 27 (10.5%) had growth failure all of which were attributed to non-endocrine reasons. There was a significant correlation between growth failure and serum albumin levels below 3.5 gr/dL (p=0.002). Of the patients, 10% had microcephaly and there was a significant correlation between presence of microcephaly and serum albumin levels below 3.5 gr/dL (p=0.020). Similarly, there was a significant correlation between presence of microcephaly and serum albumin levels below 3.5 gr/dL (p=0.001). Only 3 of 260 (1.1%) patients had endocrine dysfunction. Of these, one with lecithin cholesterol acyl transferase deficiency and other with Kearns-Sayre syndrome had diabetes and one with glycerol kinase deficiency had glucocorticoid deficiency. Endocrine dysfunction in patients with IMD is relatively rare. For this reasons there is no need to do routine endocrine evaluations in most patients with IMD unless a careful and detailed history and physical examination point an endocrine dysfunction. Key words: Inherited, metabolic diseases, endocrine dysfunction.
Endocrine Dysfunctions in Patient with Inherited Metabolic Diseases Inherited metabolic diseases (IMD) can affect many organ systems including endocrine system. Though there are limited data regarding endocrine dysfunctions related to IMD in adults, no data exists in pediatric patients with IMD. The aim of this study was to investigate endocrine dysfunctions in patient with IMD by assessing their demographic, clinical and laboratory data. Data were obtained retrospectively from the medical reports of the patients with IMD, who were followed in the Division of Pediatric Metabolism and Nutrition between June 2011 and November 2013. A total of 260 patients [139 males (53%) and 121 females (47%)] with the diagnosis of IMD 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. There was no statistically significant difference between main and subgroups of the diseases with respect to the age and gender. Presence of consanguinity and similar diseases in siblings were found to be significant. History of similar diseases was present in 25% of the patients. Growth status was evaluated in 258 patients and of them 27 (10.5%) had growth failure all of which were attributed to non-endocrine reasons. There was a significant correlation between growth failure and serum albumin levels below 3.5 gr/dL (p=0.002). Of the patients, 10% had microcephaly and there was a significant correlation between presence of microcephaly and serum albumin levels below 3.5 gr/dL (p=0.020). Similarly, there was a significant correlation between presence of microcephaly and serum albumin levels below 3.5 gr/dL (p=0.001). Only 3 of 260 (1.1%) patients had endocrine dysfunction. Of these, one with lecithin cholesterol acyl transferase deficiency and other with Kearns-Sayre syndrome had diabetes and one with glycerol kinase deficiency had glucocorticoid deficiency. Endocrine dysfunction in patients with IMD is relatively rare. For this reasons there is no need to do routine endocrine evaluations in most patients with IMD unless a careful and detailed history and physical examination point an endocrine dysfunction. Key words: Inherited, metabolic diseases, endocrine dysfunction.
Description
Keywords
Kalıtsal, Metabolik hastalık, Endokrin bozukluk, Inherited, Metabolic diseases, Endocrine dysfunction
Citation
Erdöl, Ş. (2014). Kalıtsal metabolik hastalığı olan olgularda endokrinolojik bozukluklar. Yayınlanmamış uzmanlık tezi. Uludağ Üniversitesi Tıp Fakültesi.