Neonatal diabetes mellitus due to a novel mutation in theGATA6gene accompanying renal dysfunction: A case report

2015 ◽  
Vol 167 (4) ◽  
pp. 925-927 ◽  
Author(s):  
Hale Tuhan ◽  
Gonul Catli ◽  
Ahmet Anik ◽  
Derya Özmen ◽  
Mehmet Atilla Türkmen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Renal Dysfunction ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Case Presentation ◽  
Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

scholarly journals Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Leyla Sahebi ◽  
Nikoo Niknafs ◽  
Hosein Dalili ◽  
Elahe Amini ◽  
Tahereh Esmaeilnia ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

scholarly journals A Rare Case Report of Neonatal Diabetes Mellitus

2018 ◽  
Vol 5 (6) ◽  
pp. 336-338
Author(s):  
Dr. Pradnya. P. Wali ◽  
◽  
Dr. Hemant Parakh ◽  
Dr. K. Bhaskar Reddy ◽  
Dr. Sandeep Kumar Jain ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Rare Case ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Case Report

A novel mutation in INS gene linked to permanent neonatal diabetes mellitus

Endocrine ◽  
2019 ◽  
Vol 64 (3) ◽  
pp. 719-723 ◽  
Author(s):  
Tao Wang ◽  
Sisi Ding ◽  
Sicheng Li ◽  
Heming Guo ◽  
Xiaohong Chen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus

scholarly journals Neonatal Diabetes Mellitus Accompanied by Diabetic Ketoacidosis and Mimicking Neonatal Sepsis: A Case Report

2010 ◽  
Vol 2 (3) ◽  
pp. 131-13 ◽  
Author(s):  
Ayhan Abacı ◽  
Cem Hasan Razi ◽  
Osman Özdemir ◽  
Samil Hızlı ◽  
Fatih Kıslal ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Diabetic Ketoacidosis ◽  
Neonatal Sepsis ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus
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