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一過性糖尿病の新生児における遺伝子変異
A novel mutation at the gene in a newborn with transient diabetes mellitus.
PMID: 32684766 PMCID: PMC7344130. DOI: 10.14744/TurkPediatriArs.2019.01336.
抄録
新生児糖尿病は、高血糖症、脱水、生育不全、および人生の最初の6ヶ月以内にケトアシドーシスを提示することができます単発性疾患です。新生児糖尿病は一過性または永続的なものである。ここでは、糖尿病性ケトアシドーシスを呈し、SUR1タンパク質をコードするABCC8遺伝子にヘテロ接合型のde novo変異p.Thr1381Asnを認めた一過性の新生児糖尿病を有する10週齢の乳児について述べる。糖尿病の家族歴はなく，両親はABCC8遺伝子の変異陰性であった．インスリン療法を開始し，生後4ヶ月で糖尿病が寛解した．この患者は2年間の追跡調査期間中、薬を必要とせずに低血糖状態を維持した。
Neonatal diabetes mellitus is a monogenic disease that can present with hyperglycemia, dehydration, failure to thrive, and ketoacidosis within the first six months of life. Neonatal diabetes mellitus can be transient or permanent. Here, we describe a 10-week-old infant with transient neonatal diabetes mellitus who presented with diabetic ketoacidosis and was found to have heterozygous a de novo mutation, p.Thr1381Asn in the ABCC8 gene, which encodes the SUR1 protein. There was no family history of diabetes mellitus and the parents were negative for the mutation at ABCC8. The patient started on insulin therapy and remission of diabetes occurred at 4 months of age. The patient remained euglycemic over a 2-year follow-up period without necessitating any medicine.
新生児糖尿病は、あなたの人生の中で最も重要なものの一つです。新生児の糖尿病は、あなたのために、あなたのために、あなたのために、あなたのために、あなたのために、あなたのために。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.新生児糖尿病の発症とABCC8'deki mutasyon için negatifti.このような突然変異は、その原因の一つであると考えられています。
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.
Copyright: © 2020 Turkish Archives of Pediatrics.