Abstract
Objective: The aim of the study was to retrospectively evaluate 10 patients who had been diagnosed with neonatal diabetes mellitus (NDM) and followed at our hospital between January 2007 and September 2017.
Material and Methods: The study group consisted of 10 pediatric patients diagnosed with NDM and followed and treated at the SBÜ Ankara Child Health and Disease Hematology Oncology Training and Research Hospital between January 2007 and September 2017. The patients’ demographic information, medical records and treatments were evaluated.
Results: Two patients (20%) were male and 8 (80%) were female. The median age of diagnosis was 12.5 days (range 4 to 68.25 days). Three (30%) patients had no consanguinity and seven (70%) patients had a history of cousin marriages in their parents. The most common complaints were frequent urination, fatigue, vomiting and hyperglycemia detected with laboratory investigations performed due to low birth weight. Genetic mutation was detected in three (30%) patients. These mutations were homozygous mutation in the SLC2A2 gene, homozygous mutation in the IPF1 gene, and homozygous deletion in the exon 3 in the INSR gene. One patient was diagnosed with the Wollcott-Rallison syndrome and another was diagnosed with the Fanconi-Bickel syndrome. At the time of admission; insulin infusion therapy and hydration were used for 9 (90%) patients and subcutaneous (sc) insulin therapy for one (10%) patient. The hyperglycaemia was taken under control and then sc insulin (short or moderate duration of action) therapy was given. Insulin pump therapy was tried in one patient. There was no patient who took oral antidiabetic therapy.
Conclusion: In the first 6 months of life, NDM should be kept in mind in cases of hyperglycaemia requiring insulin therapy for more than two weeks. Genetic analysis should be performed on all patients diagnosed with NDM and the treatment options should be reassessed according to the outcome. All patients, including those with transient NDM, should be followed up. Neonatal DM is an important life-threatening disease and needs further study regarding the frequency, clinical course and treatment.
Keywords: Transient, Genetic, Permanent, Neonatal diabetes mellitus
References
- Aguilar-Bryan L, Bryan J. Neonatal diabetes mellitus. Endocr Rev 2008; 29: 265-91.
- 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.
- 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.
- Polak M, Shield J. Neonatal and very-early-onset diabetes mellitus. Semin Neonatol 2004;9:59-65.
- 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.
- 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.
- Naylor RN, Greeley SA, Bell GI, Philipson LH. Genetics and pathophysiology of neonatal diabetes mellitus. J Diabetes Investig 2011 5;2:158-69.
- 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.
- 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.
- 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.
- 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.
- Kong JH, Kim JB. Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation. Korean J Pediatr 2011;54:179-82.
- 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).
- Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. Activating mutations in the gene encoding the ATP-sensitive potassium channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004;350:1838-49.
- Nagashima K, Tanaka D, Inagaki N. Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan. Pediatr Int 2017;59:129-33.
- 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.
- 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.
- 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.
- 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.
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Copyright © 2019 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
