Semih Bolu, İbrahim Hakan Bucak, Mehmet Tekin, İrem Eldem, Çapan Konca

Geçici diabetes mellituslu yenidoğanda ABCC8 geninde yeni bir de novo mutasyon

Neonatal diabetes mellitus, yaşamın ilk altı ayında hiperglisemi, dehidrasyon, gelişme geriliği ve ketoasidoz ile ortaya çıkabilen monojenik bir hastalıktır. Neonatal diabetes mellitus geçici ya da kalıcı olabilir. Burada, diyabetik ketoasidoz ile başvuran ve SUR1 proteinini kodlayan ABCC8 geninde heterozigot de novo mutasyonu olan (p.Thr1381Asn), geçici neonatal diabetes mellituslu 10 haftalık bir olguyu sunuyoruz. Ailede diyabet öyküsü yoktu ve ebeveynler ABCC8’deki mutasyon için negatifti. Hastaya insülin tedavisi başlandı ve dört aylıkken diyabet remisyonu gerçekleşti. Hasta iki yıllık takipte herhangi bir ilaç gereksinimi olmadan öglisemik kaldı.

A novel de novo mutation at the ABCC8 gene in a newborn with transient diabetes mellitus

Neonatal diabetes mellitus is a monogenic disease that can present withhyperglycemia, dehydration, failure to thrive, and ketoacidosis withinthe first six months of life. Neonatal diabetes mellitus can be transientor permanent. Here, we describe a 10-week-old infant with transientneonatal diabetes mellitus who presented with diabetic ketoacidosis andwas found to have heterozygous a de novo mutation, p.Thr1381Asn inthe ABCC8 gene, which encodes the SUR1 protein. There was no familyhistory of diabetes mellitus and the parents were negative for the mutation at ABCC8. The patient started on insulin therapy and remission ofdiabetes occurred at 4 months of age. The patient remained euglycemicover a 2-year follow-up period without necessitating any medicine.

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