The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age

Khurana, Divya S.; Contreras, M C; Malhotra, Neha; Bargman, Renee

doi:10.2337/dc11-2439

Cited by 6 publications

(5 citation statements)

References 3 publications

(8 reference statements)

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“…These low doses of glyburide are consistent with an infant reported with hyperglycemia at 2 days, placed on glyburide on day 7, and successfully treated using 0.02 mg/kg/day ( 5 ). In these cases, genetic testing was delayed due to birth in a country without quick access to testing, refusal of insurance coverage, or extreme prematurity.…”

Section: Discussionsupporting

confidence: 80%

“…In these cases, genetic testing was delayed due to birth in a country without quick access to testing, refusal of insurance coverage, or extreme prematurity. Khurana et al ( 5 ) suggested that “patients with the onset of diabetes prior to 1 year of age who have a strong family history of early-onset diabetes” receive a trial of sulfonylurea even without genetic testing.…”

Section: Discussionmentioning

confidence: 99%

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Remission of Severe Neonatal Diabetes With Very Early Sulfonylurea Treatment

et al. 2015

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Remission of Severe Neonatal Diabetes With Very Early Sulfonylurea Treatment

et al. 2015

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“…It is generally recommended to initiate SUs treatment in a patient with NDM once their genetic test has confirmed the presence of activating mutations of the K-ATP channel (37). In addition, some studies suggest that patients who are highly suspected to have NDM could receive a trial treatment with SUs even without performing genetic testing (16,41,42). Patients who were successfully switched from insulin to SUs treatment certainly had an improvement in HbA1c levels (43).…”

Section: Discussionmentioning

confidence: 99%

Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage

Wang

2023

Front. Neurol.

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Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. At present, most published studies have focused on the types of gene mutations associated with NDM and the therapeutic effect of sulfonylureas (SUs) on the disease; few studies on NDM-associated intracranial hemorrhage (ICH) exist. In addition, p.V59M mutations generally lead to intermediate DEND (iDEND: intermediate developmental delay and neonatal diabetes) syndrome without epilepsy. Here, we present a case of a 1-month-old male infant who was diagnosed with NDM caused by a KCNJ11 missense mutation (p.V59M), presenting with cerebral injury. In the early stage of the disease, continuous insulin dose adjustment did not achieve an ideal level of blood glucose. Although blood glucose was subsequently controlled by oral SUs, which were administered after the genetic test result, the patient still displayed epilepsy and developmental delay. In this case report, we present our experience in the treatment of the infant, switching from insulin to oral SUs and we thought that SUs have limited effects on improving the prognosis of neurodevelopmental disturbances in NDM with foci of encephalomalacia. In addition, there may be a relationship between KCNJ11 missense mutations and cerebral injury, and further research must be carried out to confirm these points.

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“…Moreover, the finding was consistent in subgroup analyses for both in cohort studies and in cross-sectional studies. Furthermore, in some studies, sulfonylurea therapy is also safe and successful in neonatal diabetes patients before genetic testing results [ 23 ]. It is might be K ATP -channel mutations accounting for larger proportions of NDM.…”

Section: Discussionmentioning

confidence: 99%

Sulfonylurea for the treatment of neonatal diabetes owing to KATP-channel mutations: a systematic review and meta-analysis

et al. 2017

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The effect of sulfonylurea for the treatment of neonatal diabetes (NDM) is remain uncertain. We conducted this systematic review and meta-analysis to investigate the effect of sulfonylurea for NDM and to provide the latest and most convincing evidence for developing clinical practice guidelines of NDM. A literature review was performed to identify all published studies reporting the sulfonylurea on the treatment of neonatal diabetes. The search included the following databases: PUBMED, EMBASE and the Cochrane Library. The primary outcome was the success rates of treatment, change of glycosylated hemoglobin (HbA1c) and C-peptide. Data results were pooled by using MetaAnalyst with a random-effects model. Ten studies (6 cohort studies and 4 cross-sectional studies) involving 285 participants were included in the analysis. The pooled estimated success rate by the random-effects model was 90.1%(95% CI: 85.1%–93.5%). HbA1c had a significantly lower compared with before treatment. The pooled estimate of MD was -2.289, and the 95% CI was -2.790 to -1.789 (P < 0.001). The subgroup analysis showed a similar result for cohort studies and in cross-sectional studies. The common mild side effect is gastrointestinal reaction. The present meta-analysis suggested that sulfonylurea had a positive effect for treatment NDM due to KATP channel mutations. In addition, sulfonylurea also displayed sound safety except the mild gastrointestinal reaction. However, the findings rely chiefly on data from observational studies. Further well-conducted trials are required to assess sulfonylurea for NDM.

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The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age

Cited by 6 publications

References 3 publications

Remission of Severe Neonatal Diabetes With Very Early Sulfonylurea Treatment

Remission of Severe Neonatal Diabetes With Very Early Sulfonylurea Treatment

Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage

Sulfonylurea for the treatment of neonatal diabetes owing to KATP-channel mutations: a systematic review and meta-analysis

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