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TRANSIENT NEONATAL DIABETES CAUSED BY ACTIVATING NOVEL KCNJ11 GENE MUTATION AND SUCCESSFULL TRANSFER TO SULPHONYLUREA THERAPY

Gordana Stipančić
Marija Požgaj Šepec
Lavinia La Grasta Sabolić

Puni tekst: hrvatski, pdf (714 KB) str. 0-0 preuzimanja: 79* citiraj
APA 6th Edition
Stipančić, G., Požgaj Šepec, M. i La Grasta Sabolić, L. (2017). PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM. Liječnički vjesnik, 139 (7-8), 0-0. Preuzeto s https://hrcak.srce.hr/189783
MLA 8th Edition
Stipančić, Gordana, et al. "PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM." Liječnički vjesnik, vol. 139, br. 7-8, 2017, str. 0-0. https://hrcak.srce.hr/189783. Citirano 22.07.2019.
Chicago 17th Edition
Stipančić, Gordana, Marija Požgaj Šepec i Lavinia La Grasta Sabolić. "PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM." Liječnički vjesnik 139, br. 7-8 (2017): 0-0. https://hrcak.srce.hr/189783
Harvard
Stipančić, G., Požgaj Šepec, M., i La Grasta Sabolić, L. (2017). 'PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM', Liječnički vjesnik, 139(7-8), str. 0-0. Preuzeto s: https://hrcak.srce.hr/189783 (Datum pristupa: 22.07.2019.)
Vancouver
Stipančić G, Požgaj Šepec M, La Grasta Sabolić L. PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM. Liječnički vjesnik [Internet]. 2017 [pristupljeno 22.07.2019.];139(7-8):0-0. Dostupno na: https://hrcak.srce.hr/189783
IEEE
G. Stipančić, M. Požgaj Šepec i L. La Grasta Sabolić, "PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM", Liječnički vjesnik, vol.139, br. 7-8, str. 0-0, 2017. [Online]. Dostupno na: https://hrcak.srce.hr/189783. [Citirano: 22.07.2019.]

Sažetak
Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes that usually presents within the first six months of life. It occurs in the form of transient and permanent NDM. Permanent NDM requires life-long treatment while TNDM resolves few weeks or months after treatment initiation, with relapse occuring only in around 50% of patients ­during their adolescence or young adult life. Mutations in ABCC8, or less often in KCNJ11 gene (coding subunit of the ATP-sensitive potassium channel (KATP channel)) cause the disease in less than 30% of all patients. We present our female patient with transient NDM caused by a novel activating KCNJ11 mutation in the Kir6.2 subunit of the K-ATP channel and her successfull transfer from insulin to sulphonylurea therapy. Genetic testing was done at the age of 22 years, 12 years after disease relapse and ten years of insulin treatment. Three months after transfer to sulphonylurea therapy HbA1c levels normalised, followed by normalisation of C-peptide and insulin values as well. Conclusion: Using genetic analysis to confirm monogenic form of diabetes changes the therapeutical approach with positive effect on disease control and course and opens the possibility of genetic counseling.

Ključne riječi
Diabetes mellitus – drug therapy, genetics; Infant, newborn, diseases – drug therapy, genetics; Hypoglycemic agents – therapeutic use; Glyburide – therapeutic use; Sulfonylurea receptors – genetics; Insulin – therapeutic use; Katp channels – genetics; Mutation

Hrčak ID: 189783

URI
https://hrcak.srce.hr/189783

[hrvatski]

Posjeta: 152 *