Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

Öztekin, Osman; Durmaz, Erdem; Kalay, Salih; Flanagan, Sarah E.; Ellard, Sian; Bircan, İffet

doi:10.1038/jp.2012.46

Cited by 8 publications

(6 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Evidence suggests that patients with permanent or transient NDM due to mutations in KCNJ11 or ABCC8 gene were successfully treated with SU (GLIB) therapy rather than insulin. [ 169 170 171 172 ] An observational case study reported that young children with neonatal diabetes even with blood glucose level of 350 mg/dL also responded to a usual dose of SU. [ 173 ]…”

Section: S Pecial S Ituationsmentioning

confidence: 99%

Consensus recommendations on sulfonylurea and sulfonylurea combinations in the management of Type 2 diabetes mellitus – International Task Force

Kalra

Bahendeka

Sahay

et al. 2018

Indian J Endocr Metab

View full text Add to dashboard Cite

For decades, sulfonylureas (SUs) have been important drugs in the antidiabetic therapeutic armamentarium. They have been used as monotherapy as well as combination therapy. Focus on newer drugs and concerns about the risk of severe hypoglycemia and weight gain with some SUs have led to discussion on their safety and utility. It has to be borne in mind that the adverse events associated with SUs should not be ascribed to the whole class, as many modern SUs, such as glimepiride and gliclazide modified release, are associated with better safety profiles. Furthermore, individualization of treatment, using SUs in combination with other drugs, backed with careful monitoring and patient education, ensures maximum benefits with minimal side effects. The current guidelines, developed by experts from Africa, Asia, and the Middle East, promote the safe and smart use of SUs in combination with other glucose-lowering drugs.

show abstract

Section: S Pecial S Ituationsmentioning

confidence: 99%

Consensus recommendations on sulfonylurea and sulfonylurea combinations in the management of Type 2 diabetes mellitus – International Task Force

Kalra

Bahendeka

Sahay

et al. 2018

Indian J Endocr Metab

View full text Add to dashboard Cite

show abstract

“…These findings suggest that the P1198L mutation is strongly associated with the development of PNDM in the patient. Furthermore, it has only recently been reported from Turkey that the same mutation was identified in a girl with NDM. In that report, the patient presented with severe hyperglycemia with ketoacidosis at 1 month‐of‐age and was initially treated with insulin.…”

Section: Discussionmentioning

confidence: 93%

Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus

Takagi

Furuta

Miyawaki

et al. 2013

J of Diabetes Invest

View full text Add to dashboard Cite

Aims/Introduction: The adenosine triphosphate (ATP)-sensitive potassium (K ATP ) channel is a key component of insulin secretion in pancreatic b-cells. Activating mutations in ABCC8 encoding for the sulfonylurea receptor subunit of the K ATP channel have been associated with the development of neonatal diabetes mellitus (NDM). The aim was to investigate clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent NDM (PNDM). Materials and Methods:The coding regions and conserved splice sites of KCNJ11, ABCC8 and INS were screened for mutations in a 12-year-old girl diagnosed with PNDM. The functional property of the mutant channel identified was examined with patchclamp experiments in COS-1 cells. We also investigated the difference of effectiveness between two groups of oral sulfonylureas in vitro and in the patient. Results: We identified a heterozygous missense mutation (c.3593 C>T, Pro1198Leu) in ABCC8. The mutated residue (P1198) is located within a putative binding site of sulfonylureas, such as tolbutamide or gliclazide. In patch-clamp experiments, the mutant channel was less ATP sensitive than the wild type. Furthermore, the sensitivity to tolbutamide was also reduced in the mutant channel. In addition to the tolbutamide/gliclazide binding site, glibenclamide is thought to also bind to another site. Glibenclamide was more effective than other sulfonylureas in vitro and in the patient. The treatment of the patient was finally able to be switched from insulin injection to oral glibenclamide. Conclusions: We identified the Pro1198Leu ABCC8 mutation in a PNDM patient, and clarified the functional and clinical characterization. The present findings provide new information for understanding PNDM. (J Diabetes Invest,

show abstract

“…The p.F577L mutation has not been reported in the literature to date. In most patients with K ATP channel mutations, improved glycaemic control may be achieved with sulfonylurea preparation [11–14], thus glibenclamide was successfully introduced (it can also improve symptoms of developmental delay). Clinical course and low levels of C peptide speak in favour of permanent neonatal diabetes in this patient.…”

Section: Discussionmentioning

confidence: 99%

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Katanic

Vorgucin

Hattersley

et al. 2017

Diabetes Research and Clinical Practice

View full text Add to dashboard Cite

show abstract

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

Cited by 8 publications

References 10 publications

Consensus recommendations on sulfonylurea and sulfonylurea combinations in the management of Type 2 diabetes mellitus – International Task Force

Consensus recommendations on sulfonylurea and sulfonylurea combinations in the management of Type 2 diabetes mellitus – International Task Force

Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Contact Info

Product

Resources

About