Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes: A Comparative Genomic and Tagging Single Nucleotide Polymorphism Approach

Diabetes ◽  
2006 ◽  
Vol 55 (8) ◽  
pp. 2272-2276 ◽  
Author(s):  
A. L. Gloyn ◽  
D. J.G. Mackay ◽  
M. N. Weedon ◽  
M. I. McCarthy ◽  
M. Walker ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Comparative Genomic ◽  
Common Genetic Variation ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes

Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care

2017 ◽  
Vol 36 (4) ◽  
pp. 196-205 ◽  
Author(s):  
Martha Anne Zammit ◽  
Stefanie Marie Agius ◽  
Jean Calleja-Agius
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Management ◽  
Neonatal Diabetes ◽  
Later Life ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes

AbstractTransient neonatal diabetes mellitus (TNDM) is a rare disorder, with a reported incidence of approximately 1 in 450,000 live births. It is characterized by insulin-requiring hyperglycemia in the neonatal period. The disease improves by early childhood, but the patient may relapse in later life. Diagnosis is made after genetic testing following presentation with hyperglycemia not conforming to Type 1 or Type 2 diabetes. Management is based on insulin and possible sulfonylurea administration. Three genetically distinct subtypes of TNDM are recognized. Type 1 TNDM is due to overexpression of genes at the 6q24 locus, whereas the 11p15 locus is involved in Type 2 and 3 TNDM. In this article the clinical presentation, management, and genetics of TNDM are discussed, particularly emphasizing the role of the neonatal nurse.

An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus

2009 ◽  
Vol 31 (4) ◽  
pp. 816-820 ◽  
Author(s):  
Lindsey A. Loomba-Albrecht ◽  
Nicole S. Glaser ◽  
Dennis M. Styne ◽  
Andrew A. Bremer
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes

Differences between Transient Neonatal Diabetes Mellitus Subtypes can Guide Diagnosis and Therapy

2021 ◽  
Author(s):  
Riccardo Bonfanti ◽  
Dario Iafusco ◽  
Ivana Rabbone ◽  
Giacomo Diedenhofen ◽  
Carla Bizzarri ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Clinical Features ◽  
Umbilical Hernia ◽  
Neonatal Diabetes ◽  
Pharmacological Therapy ◽  
Neonatal Diabetes Mellitus ◽  
Data Set ◽  
Transient Neonatal Diabetes Mellitus ◽  
Remission Of Diabetes ◽  
Transient Neonatal Diabetes

Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design: Retrospective analysis of the Italian data set of patients with TNDM. Methods: Clinical features and treatment of 22 KATP/ TNDM patients and 12 6q24/TNDM patients were compared. Results: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (p=0.009 and p=0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 vs 12 weeks) (p=0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

Transient Neonatal Diabetes Mellitus

2003 ◽  
Vol 17 (2) ◽  
pp. 73-74
Author(s):  
MJ Reddy ◽  
RH Udani ◽  
SM Aber ◽  
V Shingde
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes

scholarly journals Association Study between BGLAP Gene HindIII Polymorphism and Type 2 Diabetes Mellitus Development in Ukrainian Population

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Yaroslav D. Chumachenko ◽  
Viktoriia Yu. Harbuzova ◽  
Alexander V. Ataman
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphism ◽  
Type 2 Diabetes Mellitus ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Hindiii Polymorphism ◽  
Polymerase Chain

Type 2 diabetes mellitus (T2DM) belongs to the diseases with hereditary predisposition, so both environmental and genetic factors contribute to its development. Recent studies have demonstrated that the skeleton realizes systemic regulation of energy metabolism through the secretion of osteocalcin (OCN). Thus, the association analysis between HindIII single nucleotide polymorphism of OCN gene (BGLAP) promoter region and T2DM development in Ukrainian population was carried out. 153 individuals diagnosed with T2DM and 311 control individuals were enrolled in the study. The genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The lack of association between BGLAP HindIII single nucleotide polymorphism (SNP) and T2DM development among Ukrainians was found. Further studies with extended groups of comparison are needed to confirm the obtained results.

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