Clinical Predictors of Transient versus Persistent Neonatal Hyperinsulinism

Falzone, Nicole; Harrington, Jennifer

doi:10.1159/000511139

Cited by 9 publications

(8 citation statements)

References 24 publications

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“…We show that patients with KATP CHI were ~830 g heavier compared to CHI due to unknown cause. Higher birth weight has been reported previously in patients with KATP CHI 14,15 and with persistent CHI 16 . However, previous studies generally did not include control cases without KATP mutations, were smaller in size, and were limited to single centres impacting on the ability to statistically assess the importance of birth weight for identifying KATP CHI.…”

Section: Discussionsupporting

confidence: 66%

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Hewat

Yau

Jerome

et al. 2021

European Journal of Endocrinology

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Objective Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. We aimed to determine the clinical features that help to identify KATP-hyperinsulinism at diagnosis. Design We studied 761 individuals with KATP-hyperinsulinism and 862 probands with hyperinsulinism of unknown aetiology diagnosed before 6 months of age. All were referred as part of routine clinical care. Methods We compared the clinical features of KATP-hyperinsulinism and unknown hyperinsulinism cases. We performed logistic regression and ROC analysis to identify the features that predict KATP-hyperinsulinism. Results Higher birth weight, diazoxide unresponsiveness and diagnosis in the first week of life were independently associated with KATP-hyperinsulinism (adjusted Odds Ratio 4.5 (95% CI, 3.4-5.9), 0.09 (0.06-0.13) and 3.3 (2.0- 5.0) respectively). Birth weight and diazoxide unresponsiveness were additive and highly discriminatory for identifying KATP-hyperinsulinism (ROC area under the curve for birth weight 0.80, diazoxide responsiveness 0.77, and together 0.88, 95% CI 0.85-0.90). 86% born large for gestation and 78% born appropriate for gestation who did not respond to diazoxide treatment had KATP-hyperinsulinism. In contrast, of those individuals born small for gestation, none who were diazoxide responsive and only 4% of those who were diazoxide unresponsive had KATP-hyperinsulinism. Conclusions Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. These patients should be prioritised for genetic testing for KATP channel genes.

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Section: Discussionsupporting

confidence: 66%

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Hewat

Yau

Jerome

et al. 2021

European Journal of Endocrinology

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“…Hyperinsulinism is a condition involving dysregulated insulin secretion from pancreatic beta-cells, in both the persistent and transient forms of the disease [9]. PHI is commonly called congenital hyperinsulinism (CHI), and genetic mutations such as ABCC8…”

Section: Discussionmentioning

confidence: 99%

“…Since insulin is unstable in the circulation due to its short half-life (6 minutes), it cannot be used as the sole diagnostic parameter for hyperinsulinism [9,11]. Therefore, it is necessary to establish a critical sample list for diagnosing hyperinsulinism when hypoglycemia is present (serum glucose 45-55 mg/dL; typically, < 50 mg/dL).…”

Section: Discussionmentioning

confidence: 99%

“…Profound hypoglycemia due to CHI can lead to brain injury, since the brain depends on glucose as an oxidative fuel [7,8]. Neurodevelopmental delay due to hyperinsulinism has been reported in 30%-50% of cases of persistent hyperinsulinism (PHI) and transient hyperinsulinism (THI) [6,9]. Unlike monogenic forms of CHI, THI is usually related to perinatal stress in prematurity, and may be seen in small for gestational age (SGA) infants, infants of diabetic mothers, and cases of birth asphyxia [6].…”

Section: Introductionmentioning

confidence: 99%

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A Case of Hyperinsulinemic Hypoglycemia in Premature Infant Treated with Oral Diazoxide

Pyeon

Jeong

Koh

2022

Soonchunhyang Med Sci

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Neonatal hyperinsulinism, whether permanent or transient, results in prolonged hypoglycemia, which increases the risk of hypoglycemic brain injury. Therefore, prompt diagnosis and management of hyperinsulinemic hypoglycemia is important. Drawing a “critical sample” at the time of hypoglycemia is useful for diagnosis. Genetic testing for defective insulin-regulating genes in pancreatic beta-cells might also be helpful in cases of prolonged hypoglycemia. High-calorie feeding or glucose infusion is necessary to maintain normoglycemia. Diazoxide is the treatment of choice for hyperinsulinism and should be continued until the hypoglycemia resolves. We describe a case of transient neonatal hyperinsulinemia hypoglycemia in a small-for-gestational-age preterm infant who underwent diazoxide treatment and achieved a favorable outcome.

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“…Although the factors associated with hyperinsulinism in neonates are well established, there are limited useful clinical or biochemical indicators allowing for the differentiation of transient vs persistent disease. A birth weight greater than the 90th percentile has been found to be associated with an eightfold increased risk of having a persistent form of HI (OR 8.8, 95% CI 2.5–30) and a 21‐fold increased risk of being diazoxide unresponsive (OR 21.1, 95% CI 4.9–91.8) 10 . More research is required to allow for the accurate identification of children with transient forms of hyperinsulinism responsive to lower doses of diazoxide.…”

mentioning

confidence: 99%