Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia

2014 ◽  
Vol 0 (0) ◽  
Author(s):  
Prabhakaran Kalaivanan ◽  
Ved Bhushan Arya ◽  
Pratik Shah ◽  
Vipan Datta ◽  
Sarah E. Flanagan ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Transient Neonatal Diabetes Mellitus ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes

scholarly journals Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Anna Delamerced ◽  
Lauren J. Massingham ◽  
Jose Bernardo Quintos
Keyword(s):  
Diabetes Mellitus ◽  
Cell Function ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
First Year ◽  
Dental Disease ◽  
Transient Neonatal Diabetes Mellitus ◽  
Chromosome 6Q24 ◽  
Β Cell Function ◽  
Transient Neonatal Diabetes

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission, usually within the first year. Relapse to a permanent state may occur later in life, with a mean age of 14 years. The most common cause of TNDM is a chromosome 6q24 mutation that affects pancreatic β-cell function. Reports of relapse have been limited. We describe a case of an adolescent female with TNDM due to 6q24 hypomethylation who relapsed at 15 years of age with severe dental disease as the presenting sign.

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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