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Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene

Yıl 2019, Cilt: 3 Sayı: 4, 335 - 337, 28.04.2019

Edip Unal Ruken Yıldırım Funda Feryal Taş Süleyman Yıldız Vasfiye Demir Yusuf Kenan Haspolat

https://doi.org/10.28982/josam.515839

Öz

Neonatal diabetes mellitus is a rare monogenic form of diabetes that develops in the first 6 months of life. Neonatal diabetes mellitus is commonly divided in two groups as transient and permanent. Genetic and epigenetic anomalies of chromosome 6q24 locus are responsible for 70% of transient neonatal diabetes mellitus cases. Incidence of macroglossia, umbilical hernia, cardiac and renal anomalies is increased in transient neonatal diabetes mellitus patients. Mutations in the genes (ABCC8 and KCNJ11) encoding two protein subunits (SUR1 and Kir6.2) of ATP-sensitive potassium channels constitute the second common cause of transient neonatal diabetes mellitus. In this article, we present a case with homozygous missense mutation (DNA expression: c1456> T), which was found in the ABCC8 gene in a 3.5-month-old patient with no congenital anomalies, leading to transient neonatal diabetes mellitus.

Anahtar Kelimeler

ATP-sensitive potassium channel Neonatal diabetes ABCC8 gene

Kaynakça

  • 1. Von Muhlendahl KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med.1995;333:704–8.
  • 2. Sperling MA. ATP-sensitive potassium channels: neonatal diabetes mellitus and beyond. N Engl J Med. 2006;355:507–10.
  • 3. Murphy R, Ellard S, & Hattersley AT. Clinical implications of a molecular genetic classification of monogenic B-cell diabetes. Nat Clin Pract Endocriol Metab. 2008;4:200–13.
  • 4. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes. Diabetes. 2000;49:1359–66.
  • 5. Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia. 2013;56:758–62.
  • 6. Sperling MA. Neonatal Diabetes Mellitus. In: Sperling MA (ed). Pediatric Endocrinology. Elsevıer Saunders, Philadelphia. 2014;pp.277-90.
  • 7. Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2009;12:33–42.
  • 8. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006;355:467–77.

ABCC8 geninde yeni bir mutasyonun neden olduğu geçici neonatal diyabet

Yıl 2019, Cilt: 3 Sayı: 4, 335 - 337, 28.04.2019

Edip Unal Ruken Yıldırım Funda Feryal Taş Süleyman Yıldız Vasfiye Demir Yusuf Kenan Haspolat

https://doi.org/10.28982/josam.515839

Öz

Neonatal diyabet, yaşamın ilk altı ayında ortaya çıkan ve diyabetin nadir görülen monojenik bir formudur. Genel olarak geçici ve kalıcı diye iki gruba ayrılır. Geçici neonatal diyabetli olguların %70’inden kromozom 6q24 lokusun genetik ve epigenetik anomaliler sorumludur. Bu olgularda makroglossi, umlikal herni, kardiyak ve renal anomali sıklığı artmıştır. ATP duyarlı potasyum kanallarının iki protein alt birimini (SUR1 ve Kir6.2) kodlayan genlerdeki (ABCC8 ve KCNJ11) mutasyonlar geçici neonatal diyabetin ikinci sık nedenini oluşturmaktadır. Bu yazıda konjenital anomalilerin eşlik etmediği, 3.5 aylık bir hastada ABCC8 geninde yeni saptanan ve geçici neonatal diyabete yol açan homozigot missense mutasyonlu (DNA tanımlaması: c1456>T) bir olgu sunulmuştur.

Anahtar Kelimeler

Neonatal diabet ATP duyarlı K kanalı ABCC8 geni

Kaynakça

  • 1. Von Muhlendahl KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med.1995;333:704–8.
  • 2. Sperling MA. ATP-sensitive potassium channels: neonatal diabetes mellitus and beyond. N Engl J Med. 2006;355:507–10.
  • 3. Murphy R, Ellard S, & Hattersley AT. Clinical implications of a molecular genetic classification of monogenic B-cell diabetes. Nat Clin Pract Endocriol Metab. 2008;4:200–13.
  • 4. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes. Diabetes. 2000;49:1359–66.
  • 5. Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia. 2013;56:758–62.
  • 6. Sperling MA. Neonatal Diabetes Mellitus. In: Sperling MA (ed). Pediatric Endocrinology. Elsevıer Saunders, Philadelphia. 2014;pp.277-90.
  • 7. Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2009;12:33–42.
  • 8. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006;355:467–77.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular İç Hastalıkları
Bölüm Olgu sunumu
Yazarlar

Edip Unal 0000-0002-9809-0977

Ruken Yıldırım 0000-0002-9558-3856

Funda Feryal Taş Bu kişi benim 0000-0003-2438-0602

Süleyman Yıldız Bu kişi benim 0000-0002-3117-2345

Vasfiye Demir Bu kişi benim 0000-0003-0985-4259

Yusuf Kenan Haspolat Bu kişi benim 0000-0003-1930-9721

Yayımlanma Tarihi 28 Nisan 2019
Yayımlandığı Sayı Yıl 2019 Cilt: 3 Sayı: 4

Kaynak Göster

APA Unal, E., Yıldırım, R., Taş, F. F., Yıldız, S., vd. (2019). Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. Journal of Surgery and Medicine, 3(4), 335-337. https://doi.org/10.28982/josam.515839
AMA Unal E, Yıldırım R, Taş FF, Yıldız S, Demir V, Haspolat YK. Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. J Surg Med. Nisan 2019;3(4):335-337. doi:10.28982/josam.515839
Chicago Unal, Edip, Ruken Yıldırım, Funda Feryal Taş, Süleyman Yıldız, Vasfiye Demir, ve Yusuf Kenan Haspolat. “Transient Neonatal Diabetes Mellitus Caused by a Novel Mutation in the ABCC8 Gene”. Journal of Surgery and Medicine 3, sy. 4 (Nisan 2019): 335-37. https://doi.org/10.28982/josam.515839.
EndNote Unal E, Yıldırım R, Taş FF, Yıldız S, Demir V, Haspolat YK (01 Nisan 2019) Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. Journal of Surgery and Medicine 3 4 335–337.
IEEE E. Unal, R. Yıldırım, F. F. Taş, S. Yıldız, V. Demir, ve Y. K. Haspolat, “Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene”, J Surg Med, c. 3, sy. 4, ss. 335–337, 2019, doi: 10.28982/josam.515839.
ISNAD Unal, Edip vd. “Transient Neonatal Diabetes Mellitus Caused by a Novel Mutation in the ABCC8 Gene”. Journal of Surgery and Medicine 3/4 (Nisan 2019), 335-337. https://doi.org/10.28982/josam.515839.
JAMA Unal E, Yıldırım R, Taş FF, Yıldız S, Demir V, Haspolat YK. Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. J Surg Med. 2019;3:335–337.
MLA Unal, Edip vd. “Transient Neonatal Diabetes Mellitus Caused by a Novel Mutation in the ABCC8 Gene”. Journal of Surgery and Medicine, c. 3, sy. 4, 2019, ss. 335-7, doi:10.28982/josam.515839.
Vancouver Unal E, Yıldırım R, Taş FF, Yıldız S, Demir V, Haspolat YK. Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. J Surg Med. 2019;3(4):335-7.
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