Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation

Barash, Galia; Bassan, Haim; Livné, Avinoam; Benyamini, Lilach; Heyman, Eli; Bowman, Pamela; Rachmiel, Marianna

doi:10.1007/s00592-021-01763-1

Cited by 3 publications

(8 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of 16 patients with KCNJ11 mutations, 11 experienced a decrease in epilepsy severity (pooled RD, 56%; 95%CI, 23%;89%; I 2 , 34%), compared to one of the five patients with ABCC8 mutations (pooled RD, 20%; 95%CI, −30%;79%; I 2 , 0%). The overall pooled RD was 48% (95%CI, 19%;77%; I 2 , 34%), with a high quality of evidence (Figure 5 and Table 4) after exclusion of a study in which sulfonylurea therapy was given in combination with high‐dose prednisolone 24 (Supporting Information, File S2). The ROBINS‐I tool indicated a low risk of bias for evaluating the severity of epilepsy based on EEG patterns (Figure 4).…”

Section: Resultsmentioning

confidence: 99%

“…Finally, in three studies, the sulfonylurea treatment was either discontinued or not started (Supporting Infomation, File S1). The remaining 34 studies consisted of 22 case‐reports, seven cohort studies, four cross‐sectional studies, and one case–control study 14,15,18,20,21,24–52 . In all, these 34 studies included 253 patients.…”

Section: Resultsmentioning

confidence: 99%

“…Nine studies with a total of 21 patients evaluated epilepsy based on EEG patterns before and after sulfonylurea initiation 18,24,26,34,38,39,48,49,51 . Of 16 patients with KCNJ11 mutations, 11 experienced a decrease in epilepsy severity (pooled RD, 56%; 95%CI, 23%;89%; I 2 , 34%), compared to one of the five patients with ABCC8 mutations (pooled RD, 20%; 95%CI, −30%;79%; I 2 , 0%).…”

Section: Resultsmentioning

confidence: 99%

“…Nine studies with a total of 21 patients evaluated epilepsy based on EEG patterns before and after sulfonylurea initiation. 18,24,26,34,38,39,48,49,51 Of 16 patients with KCNJ11 mutations, 11 experienced a decrease in epilepsy severity (pooled RD, 56%; 95%CI, 23%;89%; I 2 , 34%), compared to one of the five patients with ABCC8 mutations (pooled RD, 20%; 95%CI, À30%;79%; I 2 , 0%). The overall pooled RD was 48% (95%CI, 19%;77%; I 2 , 34%), with a high quality of evidence (Figure 5 and Table 4) after exclusion of a study in which sulfonylurea therapy was given in combination with high-dose prednisolone 24 (Supporting Information, File S2).…”

Section: Epilepsymentioning

confidence: 99%

See 3 more Smart Citations

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses

et al. 2022

View full text Add to dashboard Cite

Objective: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP-channel function, sulfonylureas improve long-term glycemic control. Although KATP channels are extensively expressed in the brain, the effect of sulfonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulfonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-motor integration, and attention deficits in children and adults with KCNJ11 and ABCC8-related neonatal-onset diabetes mellitus.Research Design and Methods: We conducted a systematic review and metaanalyses of the literature (PROSPERO, CRD42021254782), including individualpatient data, according to PRISMA, using RevMan software. We also graded the level of evidence.Results: We selected 34 of 776 publications. The evaluation of global neurological function before and after sulfonylurea (glibenclamide) treatment in 114 patients yielded a risk difference (RD) of 58% (95%CI, 43%-74%; I 2 = 54%) overall and 73% (95%CI, 32%-113%; I 2 = 0%) in the subgroup younger than 4 years; the level of evidence was moderate and high, respectively. EEG studies of epilepsy showed a RD of 56% (95%CI, 23%-89%; I 2 = 34%) in patients with KCNJ11 mutations, with a high quality of evidence. For hypotonia and motor function, the RDs were 90% (95%CI, 69%-111%; I 2 = 0%) and 73% (95%CI, 35%-111%; I 2 = 0%), respectively, with a high level of evidence.Conclusions: Glibenclamide significantly improved neurological abnormalities in patients with neonatal-onset diabetes due to KCNJ11 or ABCC8 mutations. Hypotonia was the symptom that responded best. Earlier treatment initiation was associated with greater benefits.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Epilepsymentioning

confidence: 99%

See 2 more Smart Citations

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses

et al. 2022

View full text Add to dashboard Cite

show abstract

“…However, after several days of receiving an oral glibenclamide solution, our patient showed no improvement, and the treatment was abandoned. Furthermore, the finding of pancreatic hypoplasia did not fit the pattern of the mutations responsive to glibenclamide [ 15 ].…”

Section: Detailed Diagnostic Work-up and Further Managementmentioning

confidence: 99%

Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report

Niculae,

Bolba,

Grama

et al. 2023

Pediatric Reports

View full text Add to dashboard Cite

Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient’s need for comfort and lack of distress with the clinicians’ need for adequate information regarding the patient’s glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to.

show abstract

Multiple drugs

2022

Reactions Weekly

View full text Add to dashboard Cite

Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation

Cited by 3 publications

References 34 publications

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses

Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report

Multiple drugs

Contact Info

Product

Resources

About