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Tip 1 Diyabetli Kardeş Olguların Kapsamlı Bir Şekilde Değerlendirilmesi

Yıl 2024, Cilt: 18 Sayı: 6, 373 - 380, 18.11.2024
https://doi.org/10.12956/tchd.1519873

Öz

Amaç: Tip 1 diyabetes mellitus (T1DM) genetik, çevresel ve immünolojik nedenlere bağlı poligenik bir hastalıktır. Kardeş T1DM’ler ile ilgili az sayıda çalışma vardır. Çalışmamızda, izlemimizdeki kardeş T1DM olguların başvuru, tanı, izlem, sosyodemografik özelliklerini değerlendirmeyi, olası ortak ve farklı özellikleri tespit etmeyi amaçladık.

Gereç ve Yöntemler: Ocak 2005-Mayıs 2017 arasında T1DM tanısı ile izlemimizde olan, kardeş olguların; başvuru, klinik, laboratuar, izlem, sosyoekonomik özellikleri retrospektif olarak dosya verilerinden tarandı.

Bulgular: Kliniğimizde T1DM kardeş diyabet sıklığı %5.9’du. Tanı ve izlem verileri olan T1DM’li 17 kardeş (toplam 34 olgu) çalışmaya dahil edildi. Kardeşlerden biri ikiz idi. İlk ve ikinci tanı alan kardeşlerin tanı yaşları, başvuru yakınmaları, tanı öncesi yakınma süreleri, tanıdaki glukoz/C-peptid değerleri, takipteki ilk beş yıl ortalama HBA1c değerleri, tanı sonrası ilk beş yıllık izlemde hastaneye yatış sayıları arasında istatistiksel olarak anlamlı fark saptanmadı. Evde T1DM tanılı çocuk olmasına rağmen, ailelerin %23.6’sında ikinci çocuğun da diyabetik ketosiadoz (DKA) ile tanı aldığı, T1DM’li kardeşler arasında antikor pozitiflikleri açısından farklılıklar olduğu, tanı-takipte Çölyak hastalığı-Hashimoto tiroiditi açısından benzerlik olmadığı, ikinci tanı alan kardeşlerin D vitamin düzeylerinin ilk tanı alan kardeşlerden anlamlı düzeyde düşük olduğu saptandı.

Sonuç: Çalışmamız; takipteki diyabetli hasta sayısının oldukça yüksek olduğu referans bir merkezde yapılmış olması, literatürde kardeş T1DM’ler ile ilgili detaylı bir değerlendirmenin bulunmaması, kardeş diyabetli olguların tanı alma şekli, tanı alma sırası, klinik, laboratuar ve izlem verilerinin değerlendirildiği kapsamlı bir pilot çalışma olması nedeni ile önemlidir. Konu ile ilgili daha fazla sayıda kardeş olgu ile yapılacak prospektif çalışmalara ihtiyaç duyulmaktadır.

Kaynakça

  • Kliegman R BR, Nelson WE Nelson textbook of pediatrics. 20 ed. Phialdelphia, PA: Elsevier 2016:2760-90.
  • American Diabetes A. Diagnosis and classification of diabetes mellitus. Diabetes Care 2014;37 Suppl 1:S81-90.
  • Pociot F, Lernmark A. Genetic risk factors for type 1 diabetes. Lancet 2016;387:2331-9.
  • Triolo TM, Fouts A, Pyle L, Yu L, Gottlieb PA, Steck AK, et al. Identical and Nonidentical Twins: Risk and Factors Involved in Development of Islet Autoimmunity and Type 1 Diabetes. Diabetes Care 2019;42:192-9.
  • Mrena S, Virtanen SM, Laippala P, Kulmala P, Hannila ML, Akerblom HK, et al. Models for predicting type 1 diabetes in siblings of affected children. Diabetes Care 2006;29:662-7.
  • Rewers MJ, Pillay K, de Beaufort C, Craig ME, Hanas R, Acerini CL, et al. ISPAD Clinical Practice Consensus Guidelines 2014. Assessment and monitoring of glycemic control in children and adolescents with diabetes. Pediatr Diabetes 2014;15 Suppl 20:102-14.
  • Couper JJ, Haller MJ, Ziegler AG, Knip M, Ludvigsson J, Craig ME, et al. ISPAD Clinical Practice Consensus Guidelines 2014. Phases of type 1 diabetes in children and adolescents. Pediatr Diabetes 2014;15 Suppl 20:18-25.
  • Morran MP, Vonberg A, Khadra A, Pietropaolo M. Immunogenetics of type 1 diabetes mellitus. Mol Aspects Med 2015;42:42-60.
  • Harjutsalo V, Podar T, Tuomilehto J. Cumulative incidence of type 1 diabetes in 10,168 siblings of Finnish young-onset type 1 diabetic patients. Diabetes 2005;54:563-9.
  • Dabelea D, Rewers A, Stafford JM, Standiford DA, Lawrence JM, Saydah S, et al. Trends in the prevalence of ketoacidosis at diabetes diagnosis: the SEARCH for diabetes in youth study. Pediatrics 2014;133:e938-45.
  • Jensen ET, Stafford JM, Saydah S, D’Agostino RB, Dolan LM, Lawrence JM, et al. Increase in Prevalence of Diabetic Ketoacidosis at Diagnosis Among Youth With Type 1 Diabetes: The SEARCH for Diabetes in Youth Study. Diabetes Car. 2021;44:1573-8.
  • Hatun S, Demirbilek H, Darcan S, Yuksel A, Binay C, Simsek DG, et al. Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study. Diabetes Res Clin Pract 2016;119:32-40.
  • Demirbilek H, Ozbek MN, Baran RT. Incidence of type 1 diabetes mellitus in Turkish children from the southeastern region of the country: a regional report. J Clin Res Pediatr Endocrinol 2013;5:98-103.
  • Okulda Diyabet Programı Eğitim Platformu. Access date: 8 July 2024. Available from: https://okuldadiyabet.meb.gov.tr/anasayfa.
  • Vanelli M, Chiari G, Ghizzoni L, Costi G, Giacalone T, Chiarelli F. Effectiveness of a prevention program for diabetic ketoacidosis in children. An 8-year study in schools and private practices. Diabetes Care 1999;22:7-9.
  • Albishi LA, AlAmri E, Mahmoud AA. Relationships among consanguinity, family history, and the onset of type 1 diabetes in children from Saudi Arabia. Prim Care Diabetes. 2022;16:102-6.
  • Ardicli D, Kandemir N, Alikasifoglu A, Ozon A, Gonc N. Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset. J Pediatr Endocrinol Metab 2014;27:635-41.
  • Watkins RA, Evans-Molina C, Blum JS, DiMeglio LA. Established and emerging biomarkers for the prediction of type 1 diabetes: a systematic review. Transl Res 2014;164:110-21.
  • Mayer-Davis EJ, Kahkoska AR, Jefferies C, Dabelea D, Balde N, Gong CX, et al. ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes 2018;19 Suppl 27:7-19.
  • Thorsen SU, Mortensen HB, Carstensen B, Fenger M, Thuesen BH, Husemoen LL, et al. No difference in vitamin D levels between children newly diagnosed with type 1 diabetes and their healthy siblings: a 13-year nationwide Danish study. Diabetes Care 2013;36:e157-8.
  • Rewers M, Ludvigsson J. Environmental risk factors for type 1 diabetes. Lancet 2016;387:2340-8.
  • Yu J, Sharma P, Girgis CM, Gunton JE. Vitamin D and Beta Cells in Type 1 Diabetes: A Systematic Review. Int J Mol Sci 2022;23:14434.
  • Sahin OA, Goksen D, Ozpinar A, Serdar M, Onay H. Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis. Endocr Connect 2017;6:159-71.
  • Gesuita R, Skrami E, Bonfanti R, Cipriano P, Ferrito L, Frongia P, et al. The role of socio-economic and clinical factors on HbA1c in children and adolescents with type 1 diabetes: an Italian multicentre survey. Pediatr Diabetes 2017;18:241-8.
  • Gesuita R, Maffeis C, Bonfanti R, Cardella F, Citriniti F, D’Annunzio G, et al. Socioeconomic Inequalities Increase the Probability of Ketoacidosis at Diagnosis of Type 1 Diabetes: A 2014-2016 Nationwide Study of 2,679 Italian Children. Front Pediatr 2020;8:575020.
  • Sutherland MW, Ma X, Reboussin BA, Mendoza JA, Bell BA, Kahkoska AR, et al. Socioeconomic position is associated with glycemic control in youth and young adults with type 1 diabetes. Pediatr Diabetes 2020;21:1412-20.

Comprehensive Evaluation of Sibling Cases with Type 1 Diabetes

Yıl 2024, Cilt: 18 Sayı: 6, 373 - 380, 18.11.2024
https://doi.org/10.12956/tchd.1519873

Öz

Objective: Type 1 diabetes mellitus (T1DM) is a polygenic disease influenced by genetic, environmental, immunological factors.There are few studies regarding siblings with T1DM.We aimed to evaluate the presentation, diagnosis, follow-up, sociodemographic characteristics of sibling T1DM cases.

Material and Methods: We retrospectively reviewed characteristics of sibling cases followed with T1DM between January 2005 and May 2017.

Results: The prevalence of T1DM sibling diabetes in our clinic was 5.9%.We included 17 siblings (a total of 34 cases) who had diagnosis and follow-up data. One of the siblings was a twin.There were no statistically significant differences between the ages at diagnosis, presenting symptoms, duration of symptoms before diagnosis, glucose/C-peptide values at diagnosis, average HbA1c values in the first five years of follow-up, or hospitalization rates in the first five-years post-diagnosis between the first and second diagnosed siblings.Despite having a child diagnosed with T1DM, 23.6% of families had a second child diagnosed with diabetic ketoacidosis.Variations in antibody positivity were observed among siblings, there were no similarities between celiac disease, Hashimoto’s thyroiditis.Vitamin D levels were significantly lower in siblings diagnosed secondarily.

Conclusion: Our study is significant for being conducted at a reference center with a high number of diabetes patients under follow-up, for filling a gap in the literature with a detailed evaluation of sibling cases with T1DM.It serves as a comprehensive pilot study examining the manner, order of diagnosis, clinical, laboratory, and follow-up data of siblings with diabetes.There is a need for prospective studies with a larger number of sibling cases to further explore this topic.

Kaynakça

  • Kliegman R BR, Nelson WE Nelson textbook of pediatrics. 20 ed. Phialdelphia, PA: Elsevier 2016:2760-90.
  • American Diabetes A. Diagnosis and classification of diabetes mellitus. Diabetes Care 2014;37 Suppl 1:S81-90.
  • Pociot F, Lernmark A. Genetic risk factors for type 1 diabetes. Lancet 2016;387:2331-9.
  • Triolo TM, Fouts A, Pyle L, Yu L, Gottlieb PA, Steck AK, et al. Identical and Nonidentical Twins: Risk and Factors Involved in Development of Islet Autoimmunity and Type 1 Diabetes. Diabetes Care 2019;42:192-9.
  • Mrena S, Virtanen SM, Laippala P, Kulmala P, Hannila ML, Akerblom HK, et al. Models for predicting type 1 diabetes in siblings of affected children. Diabetes Care 2006;29:662-7.
  • Rewers MJ, Pillay K, de Beaufort C, Craig ME, Hanas R, Acerini CL, et al. ISPAD Clinical Practice Consensus Guidelines 2014. Assessment and monitoring of glycemic control in children and adolescents with diabetes. Pediatr Diabetes 2014;15 Suppl 20:102-14.
  • Couper JJ, Haller MJ, Ziegler AG, Knip M, Ludvigsson J, Craig ME, et al. ISPAD Clinical Practice Consensus Guidelines 2014. Phases of type 1 diabetes in children and adolescents. Pediatr Diabetes 2014;15 Suppl 20:18-25.
  • Morran MP, Vonberg A, Khadra A, Pietropaolo M. Immunogenetics of type 1 diabetes mellitus. Mol Aspects Med 2015;42:42-60.
  • Harjutsalo V, Podar T, Tuomilehto J. Cumulative incidence of type 1 diabetes in 10,168 siblings of Finnish young-onset type 1 diabetic patients. Diabetes 2005;54:563-9.
  • Dabelea D, Rewers A, Stafford JM, Standiford DA, Lawrence JM, Saydah S, et al. Trends in the prevalence of ketoacidosis at diabetes diagnosis: the SEARCH for diabetes in youth study. Pediatrics 2014;133:e938-45.
  • Jensen ET, Stafford JM, Saydah S, D’Agostino RB, Dolan LM, Lawrence JM, et al. Increase in Prevalence of Diabetic Ketoacidosis at Diagnosis Among Youth With Type 1 Diabetes: The SEARCH for Diabetes in Youth Study. Diabetes Car. 2021;44:1573-8.
  • Hatun S, Demirbilek H, Darcan S, Yuksel A, Binay C, Simsek DG, et al. Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study. Diabetes Res Clin Pract 2016;119:32-40.
  • Demirbilek H, Ozbek MN, Baran RT. Incidence of type 1 diabetes mellitus in Turkish children from the southeastern region of the country: a regional report. J Clin Res Pediatr Endocrinol 2013;5:98-103.
  • Okulda Diyabet Programı Eğitim Platformu. Access date: 8 July 2024. Available from: https://okuldadiyabet.meb.gov.tr/anasayfa.
  • Vanelli M, Chiari G, Ghizzoni L, Costi G, Giacalone T, Chiarelli F. Effectiveness of a prevention program for diabetic ketoacidosis in children. An 8-year study in schools and private practices. Diabetes Care 1999;22:7-9.
  • Albishi LA, AlAmri E, Mahmoud AA. Relationships among consanguinity, family history, and the onset of type 1 diabetes in children from Saudi Arabia. Prim Care Diabetes. 2022;16:102-6.
  • Ardicli D, Kandemir N, Alikasifoglu A, Ozon A, Gonc N. Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset. J Pediatr Endocrinol Metab 2014;27:635-41.
  • Watkins RA, Evans-Molina C, Blum JS, DiMeglio LA. Established and emerging biomarkers for the prediction of type 1 diabetes: a systematic review. Transl Res 2014;164:110-21.
  • Mayer-Davis EJ, Kahkoska AR, Jefferies C, Dabelea D, Balde N, Gong CX, et al. ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes 2018;19 Suppl 27:7-19.
  • Thorsen SU, Mortensen HB, Carstensen B, Fenger M, Thuesen BH, Husemoen LL, et al. No difference in vitamin D levels between children newly diagnosed with type 1 diabetes and their healthy siblings: a 13-year nationwide Danish study. Diabetes Care 2013;36:e157-8.
  • Rewers M, Ludvigsson J. Environmental risk factors for type 1 diabetes. Lancet 2016;387:2340-8.
  • Yu J, Sharma P, Girgis CM, Gunton JE. Vitamin D and Beta Cells in Type 1 Diabetes: A Systematic Review. Int J Mol Sci 2022;23:14434.
  • Sahin OA, Goksen D, Ozpinar A, Serdar M, Onay H. Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis. Endocr Connect 2017;6:159-71.
  • Gesuita R, Skrami E, Bonfanti R, Cipriano P, Ferrito L, Frongia P, et al. The role of socio-economic and clinical factors on HbA1c in children and adolescents with type 1 diabetes: an Italian multicentre survey. Pediatr Diabetes 2017;18:241-8.
  • Gesuita R, Maffeis C, Bonfanti R, Cardella F, Citriniti F, D’Annunzio G, et al. Socioeconomic Inequalities Increase the Probability of Ketoacidosis at Diagnosis of Type 1 Diabetes: A 2014-2016 Nationwide Study of 2,679 Italian Children. Front Pediatr 2020;8:575020.
  • Sutherland MW, Ma X, Reboussin BA, Mendoza JA, Bell BA, Kahkoska AR, et al. Socioeconomic position is associated with glycemic control in youth and young adults with type 1 diabetes. Pediatr Diabetes 2020;21:1412-20.
Toplam 26 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri (Diğer)
Bölüm ORIGINAL ARTICLES
Yazarlar

İrem Turgay Yağmur 0000-0003-1230-4418

Şervan Özalkak 0000-0002-1557-6040

Nurdan Yıldırım 0000-0002-2202-9416

Zehra Aycan 0000-0003-4584-2976

Şenay Savaş Erdeve 0000-0002-4164-5089

Semra Çetinkaya 0000-0003-3974-2872

Erken Görünüm Tarihi 8 Kasım 2024
Yayımlanma Tarihi 18 Kasım 2024
Gönderilme Tarihi 21 Temmuz 2024
Kabul Tarihi 30 Eylül 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 18 Sayı: 6

Kaynak Göster

Vancouver Turgay Yağmur İ, Özalkak Ş, Yıldırım N, Aycan Z, Savaş Erdeve Ş, Çetinkaya S. Comprehensive Evaluation of Sibling Cases with Type 1 Diabetes. Türkiye Çocuk Hast Derg. 2024;18(6):373-80.


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