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Neonatal Diyabetes Mellitus Tanısıyla Takip Edilen Hastaların Retrospektif Olarak Değerlendirilmesi

Year 2019, Volume: 13 Issue: 1, 25 - 29, 21.03.2019
https://doi.org/10.12956/tjpd.2018.349

Abstract



 Amaç: Çalışmada hastanemizde Ocak 2007- Eylül 2017 yılları arasında neonatal diyabetes mellitus (NDM) tanısı alıp, takip ve tedavi edilen 10 hastanın geriye dönük olarak değerlendirilmesi amaçlanmıştır. 


Gereç ve Yöntemler: Çalışmaya Ocak 2007- Eylül 2017 yılları arasında, SBÜ Ankara Çocuk Sağlığı ve Hastalıkları Hematoloji Onkoloji Eğitim Araştırma Hastanesi’nde NDM tanısı alıp, takip ve tedavi edilen 10 hasta dahil edildi. Hastaların başvuru anında ve sonrasında aldıkları tedavileri, demografik verileri ve laboratuvar bulguları incelendi. 


Bulgular: Hastaların ikisi (%20) erkek, 8’i (%80) kızdı ve ortanca tanı yaşı 12.5 gündü (ÇDA 4-68.25 gün). Üç (%30) hastanın anne-babasında akrabalık yoktu, 7 (%70) hastanın anne babasında 1.derece kuzen evliliği vardı. En sık başvuru şikayetleri; idrar miktarında artış, halsizlik, kusma ve düşük doğum ağırlığı nedeniyle yapılan tetkiklerinde saptanan hiperglisemiydi. Üç (%30) hastanın genetik incelemesinde mutasyon saptanmış olup bu mutasyonlar; SLC2A2 geninde homozigot mutasyon, IPF1 geninde homozigot mutasyon ve INSR geninde exon 3’de homozigot delesyondu. Bir hastamıza Wollcott Rallison sendromu diğerine ise Fanconi Bickel sendromu tanısı konulmuştu. Başvuru anında; dokuz hastaya insülin infüzyonu ve sıvı tedavisi, bir hastaya ise subkutan (sc) insülin tedavisi verilmişti. Hastaların hiperglisemileri kontrol altına alındıktan sonra sc insülin (kısa veya orta etkili) tedavisine geçilmişti. Bir hastada insülin pompa tedavisi denenmişti, oral antidiyabetik tedavisi alan hastamız yoktu. 


Sonuç: Yaşamın ilk 6 ayında, iki haftadan uzun süren insülin tedavisi gerektiren hiperglisemi durumlarında NDM akılda tutulmalıdır. Tanı alan tüm hastalara genetik inceleme yapılıp tedavi seçenekleri sonuca göre yeniden değerlendirilmelidir. Geçici NDM tanılı hastalar da dahil tüm hastalar uzun süreli takip edilmelidir. Neonatal DM hayatı tehdit edebilen önemli bir hastalık olup, hastalığın sıklığı, klinik seyri ve tedavisi ile ilgili daha fazla çalışmaya ihtiyaç vardır. 

References

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  • 2. Rubio-Cabezas O, Ellard S. Diabetes mellitus in neonates and infants: Genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res Paediatr 2013;80:137-46.
  • 3. Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab 2007;92:3979-85.
  • 4. Polak M, Shield J. Neonatal and very-early-onset diabetes mellitus. Semin Neonatol 2004;9:59-65.
  • 5. Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, et al. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South Eastern region of Turkey: Predominance of non-KATP channel mutations. Eur J Endocrinol 2015;172:697-705.
  • 6. Cao B, Gong C, Wu D, Lu C, Liu F, Liu X, et al. Genetic analysis and follow-up of 25 neonatal diabetes mellitus patients in China. J Diabetes Res 2016;2016:6314368.
  • 7. Naylor RN, Greeley SA, Bell GI, Philipson LH. Genetics and pathophysiology of neonatal diabetes mellitus. J Diabetes Investig 2011 5;2:158-69.
  • 8. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000;49:1359-66.
  • 9. Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, et al. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab 2009;94:4162-70.
  • 10. Park JH, Kang JH, Lee KH, Kim NH, Yoo HW, Lee DY, et al. Insulin pump therapy in transient neonatal diabetes mellitus. Ann Pediatr Endocrinol Metab 2013;18:148-51.
  • 11. Fudvoye J, Farhat K, De Halleux V, Nicolescu CR. 6q24 Transient neonatal diabetes - how to manage while waiting for genetic results. Front Pediatr 2016;4:124.
  • 12. Kong JH, Kim JB. Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation. Korean J Pediatr 2011;54:179- 82.
  • 13. Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K. A novel KCNJ11 mutation associated with transient neonatal diabetes. J Clin Res Pediatr Endocrinol. 2017 Sep 25, (Epub ahead of print).
  • 14. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. Activating mutations in the gene encoding the ATPsensitive potassium channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004;350:1838-49.
  • 15. Nagashima K, Tanaka D, Inagaki N. Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan. Pediatr Int 2017;59:129-33.
  • 16. Unal S, Aycan Z, Halsall DJ, Kibar AE, Eker S, Ozaydin E. Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. J Pediatr Endocrinol Metab 2009;22:669- 74.
  • 17. Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, et al. Neonatal diabetes in Ukraine: Incidence, genetics, clinical phenotype and treatment. J Pediatr Endocrinol Metab 2015;28:1279-86.
  • 18. Ahn SY, Kim GH, Yoo HW. Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. Korean J Pediatr 2015;58:309-12.
  • 19. Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH. Neonatal diabetes mellitus: A model for personalized medicine. Trends Endocrinol Metab 2010;21:464-72.
Year 2019, Volume: 13 Issue: 1, 25 - 29, 21.03.2019
https://doi.org/10.12956/tjpd.2018.349

Abstract

References

  • 1. Aguilar-Bryan L, Bryan J. Neonatal diabetes mellitus. Endocr Rev 2008; 29: 265-91.
  • 2. Rubio-Cabezas O, Ellard S. Diabetes mellitus in neonates and infants: Genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res Paediatr 2013;80:137-46.
  • 3. Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab 2007;92:3979-85.
  • 4. Polak M, Shield J. Neonatal and very-early-onset diabetes mellitus. Semin Neonatol 2004;9:59-65.
  • 5. Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, et al. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South Eastern region of Turkey: Predominance of non-KATP channel mutations. Eur J Endocrinol 2015;172:697-705.
  • 6. Cao B, Gong C, Wu D, Lu C, Liu F, Liu X, et al. Genetic analysis and follow-up of 25 neonatal diabetes mellitus patients in China. J Diabetes Res 2016;2016:6314368.
  • 7. Naylor RN, Greeley SA, Bell GI, Philipson LH. Genetics and pathophysiology of neonatal diabetes mellitus. J Diabetes Investig 2011 5;2:158-69.
  • 8. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000;49:1359-66.
  • 9. Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, et al. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab 2009;94:4162-70.
  • 10. Park JH, Kang JH, Lee KH, Kim NH, Yoo HW, Lee DY, et al. Insulin pump therapy in transient neonatal diabetes mellitus. Ann Pediatr Endocrinol Metab 2013;18:148-51.
  • 11. Fudvoye J, Farhat K, De Halleux V, Nicolescu CR. 6q24 Transient neonatal diabetes - how to manage while waiting for genetic results. Front Pediatr 2016;4:124.
  • 12. Kong JH, Kim JB. Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation. Korean J Pediatr 2011;54:179- 82.
  • 13. Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K. A novel KCNJ11 mutation associated with transient neonatal diabetes. J Clin Res Pediatr Endocrinol. 2017 Sep 25, (Epub ahead of print).
  • 14. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. Activating mutations in the gene encoding the ATPsensitive potassium channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004;350:1838-49.
  • 15. Nagashima K, Tanaka D, Inagaki N. Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan. Pediatr Int 2017;59:129-33.
  • 16. Unal S, Aycan Z, Halsall DJ, Kibar AE, Eker S, Ozaydin E. Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. J Pediatr Endocrinol Metab 2009;22:669- 74.
  • 17. Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, et al. Neonatal diabetes in Ukraine: Incidence, genetics, clinical phenotype and treatment. J Pediatr Endocrinol Metab 2015;28:1279-86.
  • 18. Ahn SY, Kim GH, Yoo HW. Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. Korean J Pediatr 2015;58:309-12.
  • 19. Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH. Neonatal diabetes mellitus: A model for personalized medicine. Trends Endocrinol Metab 2010;21:464-72.
There are 19 citations in total.

Details

Primary Language Turkish
Subjects ​Internal Diseases
Journal Section ORIGINAL ARTICLES
Authors

Ali Güngör

Publication Date March 21, 2019
Submission Date December 7, 2017
Published in Issue Year 2019 Volume: 13 Issue: 1

Cite

Vancouver Güngör A. Neonatal Diyabetes Mellitus Tanısıyla Takip Edilen Hastaların Retrospektif Olarak Değerlendirilmesi. Türkiye Çocuk Hast Derg. 2019;13(1):25-9.


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