Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus

2017 ◽  
Vol 30 (5) ◽  
Author(s):  
Ranjit I. Kylat ◽  
Rajan Senguttuvan ◽  
Mohammed Y. Bader
Keyword(s):  
Diabetes Mellitus ◽  
Precision Medicine ◽  
Preterm Infants ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes ◽  
Methylation Defects

AbstractAlthough hyperglycemia is common in neonates, especially preterm infants, a diagnosis of neonatal diabetes mellitus (NDM) is rarely made. NDM can be permanent (45%), transient (45%) or syndromic (10%). Of the 95% of identifiable mutations for NDM, methylation defects in 6q24,

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

Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant

2015 ◽  
Vol 84 (4) ◽  
pp. 283-288 ◽  
Author(s):  
Sabrina Anderson de la Llana ◽  
Philippe Klee ◽  
Federico Santoni ◽  
Caroline Stekelenburg ◽  
Jean-Louis Blouin ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Very Low Birth Weight ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Gene Variants ◽  
Low Birth Weight Infant ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes
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