In:
European Journal of Endocrinology, Oxford University Press (OUP), Vol. 184, No. 4 ( 2021-04), p. 575-585
Abstract:
Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (K ATP /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 K ATP /TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen K ATP /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 K ATP mutations (4.0 weeks; −1.04 SD) ( P = 0.009 and P = 0.007, respectively). Median time to remission was longer in K ATP /TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) ( P = 0.002). Two K ATP /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 K ATP 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, K ATP 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 K ATP mutations associated with PNDM. Adult patients carrying K ATP /TNDM mutations respond favourably to sulfonylurea monotherapy.
Type of Medium:
Online Resource
ISSN:
0804-4643
,
1479-683X
Language:
Unknown
Publisher:
Oxford University Press (OUP)
Publication Date:
2021
detail.hit.zdb_id:
1485160-X
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