دورية أكاديمية
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy
| العنوان: | Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy |
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| المؤلفون: | Bonfanti R., Iafusco D., Rabbone I., Diedenhofen G., Bizzarri C., Patera P. I., Reinstadler P., Costantino F., Calcaterra V., Iughetti L., Savastio S., Favia A., Cardella F., Presti D. L., Girtler Y., Rabbiosi S., D'Annunzio G., Zanfardino A., Piscopo A., Casaburo F., Pintomalli L., Russo L., Grasso V., Minuto N., Mucciolo M., Novelli A., Marucci A., Piccini B., Toni S., Silvestri F., Carrera P., Rigamonti A., Frontino G., Trada M., Tinti D., Delvecchio M., Rapini N., Schiaffini R., Mammi C., Barbetti F. |
| المساهمون: | Bonfanti, R., Iafusco, D., Rabbone, I., Diedenhofen, G., Bizzarri, C., Patera, P. I., Reinstadler, P., Costantino, F., Calcaterra, V., Iughetti, L., Savastio, S., Favia, A., Cardella, F., Presti, D. L., Girtler, Y., Rabbiosi, S., D'Annunzio, G., Zanfardino, A., Piscopo, A., Casaburo, F., Pintomalli, L., Russo, L., Grasso, V., Minuto, N., Mucciolo, M., Novelli, A., Marucci, A., Piccini, B., Toni, S., Silvestri, F., Carrera, P., Rigamonti, A., Frontino, G., Trada, M., Tinti, D., Delvecchio, M., Rapini, N., Schiaffini, R., Mammi, C., Barbetti, F. |
| بيانات النشر: | BioScientifica Ltd. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Datasets as Topic, Diagnosis, Differential, Diagnostic Techniques, Endocrine, Female, Humans, Infant, Newborn, Italy, Male, Mutation, Potassium Channels, Inwardly Rectifying, Remission Induction, Retrospective Studies, Sulfonylurea Receptors, Diabetes Mellitus, Diseases |
| الوصف: | Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activa ting mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We want ed to assess whether these different genetic aetiologies result in distinct clinical features. Design: Retrospective analysis of the Italian data set of patients wit h 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 value s, 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 K ATP/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 di abetes 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 w ith insulin, metformin or combination therapy. Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients w ith macroglossia and/or umbilical hernia. Remission of diabetes without pharmaco logical therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remis sion of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | volume:184; issue:4; firstpage:575; lastpage:585; numberofpages:11; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/20.500.11768/125817Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103228960 |
| DOI: | 10.1530/EJE-20-1030 |
| الإتاحة: | https://doi.org/20.500.11768/125817Test https://doi.org/10.1530/EJE-20-1030Test https://hdl.handle.net/20.500.11768/125817Test |
| رقم الانضمام: | edsbas.FFD84A39 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1530/EJE-20-1030 |
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