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

Year 2019, Volume 3, Issue 4, 335 - 337, 28.04.2019
https://doi.org/10.28982/josam.515839

Abstract

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.

References

  • 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

Year 2019, Volume 3, Issue 4, 335 - 337, 28.04.2019
https://doi.org/10.28982/josam.515839

Abstract

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.

References

  • 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.

Details

Primary Language English
Subjects General and Internal Medicine
Journal Section Case report
Authors

Edip UNAL (Primary Author)
Dicle University Faculty of Medicine, Department of Pediatric Endocrinology
0000-0002-9809-0977
Türkiye


Ruken YILDIRIM
Diyarbakır Children's Hospital, Department of Pediatric Endocrinology
0000-0002-9558-3856
Türkiye


Funda Feryal TAŞ This is me
Dicle University Faculty of Medicine, Department of Pediatric Endocrinology
0000-0003-2438-0602
Türkiye


Süleyman YILDIZ This is me
Dicle University Faculty of Medicine, Department of Pediatrics
0000-0002-3117-2345
Türkiye


Vasfiye DEMİR This is me
Kocaköy Family Health Center
0000-0003-0985-4259
Türkiye


Yusuf Kenan HASPOLAT This is me
Dicle University Faculty of Medicine, Department of Pediatric Endocrinology
0000-0003-1930-9721
Türkiye

Publication Date April 28, 2019
Published in Issue Year 2019, Volume 3, Issue 4

Cite

Bibtex @case report { josam515839, journal = {Journal of Surgery and Medicine}, issn = {}, eissn = {2602-2079}, address = {jsurgmed@gmail.com}, publisher = {Fatih BAŞAK}, year = {2019}, volume = {3}, pages = {335 - 337}, doi = {10.28982/josam.515839}, title = {Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene}, key = {cite}, author = {Unal, Edip and Yıldırım, Ruken and Taş, Funda Feryal and Yıldız, Süleyman and Demir, Vasfiye and Haspolat, Yusuf Kenan} }
APA Unal, E. , Yıldırım, R. , Taş, F. F. , Yıldız, S. , Demir, V. & Haspolat, Y. K. (2019). Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene . Journal of Surgery and Medicine , 3 (4) , 335-337 . DOI: 10.28982/josam.515839
MLA Unal, E. , Yıldırım, R. , Taş, F. F. , Yıldız, S. , Demir, V. , Haspolat, Y. K. "Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene" . Journal of Surgery and Medicine 3 (2019 ): 335-337 <http://jsurgmed.com/en/pub/issue/44120/515839>
Chicago Unal, E. , Yıldırım, R. , Taş, F. F. , Yıldız, S. , Demir, V. , Haspolat, Y. K. "Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene". Journal of Surgery and Medicine 3 (2019 ): 335-337
RIS TY - JOUR T1 - Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene AU - Edip Unal , Ruken Yıldırım , Funda Feryal Taş , Süleyman Yıldız , Vasfiye Demir , Yusuf Kenan Haspolat Y1 - 2019 PY - 2019 N1 - doi: 10.28982/josam.515839 DO - 10.28982/josam.515839 T2 - Journal of Surgery and Medicine JF - Journal JO - JOR SP - 335 EP - 337 VL - 3 IS - 4 SN - -2602-2079 M3 - doi: 10.28982/josam.515839 UR - https://doi.org/10.28982/josam.515839 Y2 - 2019 ER -
EndNote %0 Journal of Surgery and Medicine Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene %A Edip Unal , Ruken Yıldırım , Funda Feryal Taş , Süleyman Yıldız , Vasfiye Demir , Yusuf Kenan Haspolat %T Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene %D 2019 %J Journal of Surgery and Medicine %P -2602-2079 %V 3 %N 4 %R doi: 10.28982/josam.515839 %U 10.28982/josam.515839
ISNAD Unal, Edip , Yıldırım, Ruken , Taş, Funda Feryal , Yıldız, Süleyman , Demir, Vasfiye , Haspolat, Yusuf Kenan . "Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene". Journal of Surgery and Medicine 3 / 4 (April 2019): 335-337 . https://doi.org/10.28982/josam.515839
AMA Unal E. , Yıldırım R. , Taş F. F. , Yıldız S. , Demir V. , Haspolat Y. K. Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. J Surg Med. 2019; 3(4): 335-337.
Vancouver Unal E. , Yıldırım R. , Taş F. F. , Yıldız S. , Demir V. , Haspolat Y. K. Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene. Journal of Surgery and Medicine. 2019; 3(4): 335-337.
IEEE E. Unal , R. Yıldırım , F. F. Taş , S. Yıldız , V. Demir and Y. K. Haspolat , "Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene", Journal of Surgery and Medicine, vol. 3, no. 4, pp. 335-337, Apr. 2019, doi:10.28982/josam.515839

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