Language:

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy

European journal of endocrinology, 2021-04, Vol.184 (4), p.575-585 [Peer Reviewed Journal]

2021 European Society of Endocrinology ;Copyright BioScientifica Ltd. Apr 2021 ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/EJE-20-1030 ;PMID: 33606663

Full text available

Citations Cited by

Actions
1. Add to My Research
2. Remove from My Research
3. E-mail
4. Print
5. Permalink
6. Citation
7. EasyBib
8. EndNote
9. RefWorks
10. Delicious
11. Export RIS
12. Export BibTeX

Title:
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy
Author: Bonfanti, Riccardo ; Iafusco, Dario ; Rabbone, Ivana ; Diedenhofen, Giacomo ; Bizzarri, Carla ; Patera, Patrizia Ippolita ; Reinstadler, Petra ; Costantino, Francesco ; Calcaterra, Valeria ; Iughetti, Lorenzo ; Savastio, Silvia ; Favia, Anna ; Cardella, Francesca ; Lo Presti, Donatella ; Girtler, Ylenia ; Rabbiosi, Sarah ; D’Annunzio, Giuseppe ; Zanfardino, Angela ; Piscopo, Alessia ; Casaburo, Francesca ; Pintomalli, Letizia ; Russo, Lucia ; Grasso, Valeria ; Minuto, Nicola ; Mucciolo, Mafalda ; Novelli, Antonio ; Marucci, Antonella ; Piccini, Barbara ; Toni, Sonia ; Silvestri, Francesca ; Carrera, Paola ; Rigamonti, Andrea ; Frontino, Giulio ; Trada, Michela ; Tinti, Davide ; Delvecchio, Maurizio ; Rapini, Novella ; Schiaffini, Riccardo ; Mammì, Corrado ; Barbetti, Fabrizio
Subjects: Birth weight ; Chromosome 6 ; Clinical Study ; Datasets as Topic ; Diabetes ; Diabetes mellitus ; Diabetes Mellitus - classification ; Diabetes Mellitus - congenital ; Diabetes Mellitus - diagnosis ; Diabetes Mellitus - genetics ; Diabetes Mellitus - therapy ; Diagnosis, Differential ; Diagnostic Techniques, Endocrine - standards ; Female ; Genetic analysis ; Hernia ; Hernias ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases - classification ; Infant, Newborn, Diseases - diagnosis ; Infant, Newborn, Diseases - genetics ; Infant, Newborn, Diseases - therapy ; Insulin ; Italy ; Male ; Metformin ; Mutation ; Neonates ; Patients ; Potassium ; Potassium Channels, Inwardly Rectifying - genetics ; Remission ; Remission Induction - methods ; Retrospective Studies ; Sulfonylurea ; Sulfonylurea Receptors - genetics
Is Part Of: European journal of endocrinology, 2021-04, Vol.184 (4), p.575-585
Description: 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 weeks 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.
Publisher: England: Bioscientifica Ltd
Language: English
Identifier: ISSN: 0804-4643
EISSN: 1479-683X
DOI: 10.1530/EJE-20-1030
PMID: 33606663
Source: Geneva Foundation Free Medical Journals at publisher websites
MEDLINE

Back to results list


INSPIRE LIBRARY - TON DUC THANG UNIVERSITY	(84-028) 37 755 057	Feedback
19 Nguyen Huu Tho St. Dist.7, HCM	thuvien@tdtu.edu.vn	Feedback

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy

2021 European Society of Endocrinology ;Copyright BioScientifica Ltd. Apr 2021 ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/EJE-20-1030 ;PMID: 33606663

Searching Remote Databases, Please Wait