Congenital hyperinsulinism: management and outcome, a single tertiary centre experience

Tonbary, K El; Robinson, P.H.; Banerjee, Indraneel; Shaikh, Mohamad Guftar

doi:10.1007/s00431-020-03581-z

Cited by 9 publications

(7 citation statements)

References 22 publications

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“…The study cohort included 42 patients with female to male ratio; 1.5:1. This female predominance is different from previous reports which showed average male: female ratio of 1.2:1 17‐19 …”

Section: Discussioncontrasting

confidence: 99%

Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience

2021

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Aim Congenital hyperinsulinism (CHI) is a heterogeneous disease with variable genetic etiology, histopathology, and clinical phenotype. This study aims to describe the clinical characteristics of persistent CHI and evaluate long‐term neurological outcome and its risk factors in a cohort of Egyptian children. Methods Clinical, genetic, and biochemical data of 42 patients with CHI were collected. Patients were invited for neurological assessment, electroencephalogram, and magnetic resonance imaging of the brain. Results ABCC8 mutation was found in (61%) of cases who underwent genetic testing (17/28). Five cases with homozygous biparental ABCC8 mutation responded to combined diazoxide and octreotide without needing surgery. Seven out of twenty‐one patients who had pancreatectomy (33%) developed diabetes after a median period of 4.8 (range:1–10) years following surgery. Fifty‐five percent of our patients had neurodevelopmental impairment at follow‐up. Logistic regression analysis has shown that delayed referral to tertiary centre for more than 8 days, delayed diagnosis of CHI for more than 14 days and hospital admission for more than 30 days, are significant predictors of unfavorable neurological sequelae in CHI; (OR = 12.7 [2.56], p = 0.001), (OR = 12.7 [2.9–56], p = 0.001), and (OR = 3.8 [0.14.5], p = 0.043), respectively. Conclusions ABCC8 mutation was the commonest genetic mutation underlying CHI in this study group. CHI cases with biparental homozygous ABCC8 mutation may show response to combined octreotide and diazoxide therapy. More than half of our patients had neurodevelopmental impairment at follow‐up. Delayed referral to expert centre, delayed diagnosis and longer hospital stay are significant predictors of neurological disability in CHI cases.

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Section: Discussioncontrasting

confidence: 99%

Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience

2021

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“…disease resolution with time, although disease trajectory is inconsistent and duration is unpredictable (72,73).…”

Section: Investigations In Chi; Role Of Genetics Aetiologymentioning

confidence: 99%

“…Following sub-total pancreactomy, diabetes is common, with some cases developing diabetes shortly after surgery and some many years later. In the majority, diabetes develops within 10 years after surgery (73,99,100). Monitoring of pancreatic exocrine function is also required following sub-total pancreactomy.…”

Section: Post Pancreatectomy Diabetesmentioning

confidence: 99%

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

Shaikh,

Lucas-Herald,

Dastamani

et al. 2023

Front. Endocrinol.

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Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion. CHI is of heterogeneous aetiology with a significant genetic component and is often unresponsive to standard medical therapy options. The treatment of CHI can be multifaceted and complex, requiring multidisciplinary input. It is important to manage hypoglycaemia in CHI promptly as the risk of long-term neurodisability arising from neuroglycopaenia is high. The UK CHI consensus on the practice and management of CHI was developed to optimise and harmonise clinical management of patients in centres specialising in CHI as well as in non-specialist centres engaged in collaborative, networked models of care. Using current best practice and a consensus approach, it provides guidance and practical advice in the domains of diagnosis, clinical assessment and treatment to mitigate hypoglycaemia risk and improve long term outcomes for health and well-being.

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“… 73 Many studies document the use of SST analogues for treating childhood HH, dating back to 1977. 14 , 27 , 67 …”

Section: The Role Of Sst Analogues In Treatment Of Hhmentioning

confidence: 99%

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia

Haris

Saraswathi

Hussain

2020

Therapeutic Advances in Endocrinology

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Hyperinsulinaemic hypoglycaemia (HH) is a biochemical finding of low blood glucose levels due to the dysregulation of insulin secretion from pancreatic β-cells. Under normal physiological conditions, glucose metabolism is coupled to β-cell insulin secretion so that blood glucose levels are maintained within the physiological range of 3.5–5.5 mmol/L. However, in HH this coupling of glucose metabolism to insulin secretion is perturbed so that insulin secretion becomes unregulated. HH typically occurs in the neonatal, infancy and childhood periods and can be due to many different causes. Adults can also present with HH but the causes in adults tend to be different. Somatostatin (SST) is a peptide hormone that is released by the delta cells (δ-cells) in the pancreas. It binds to G protein-coupled SST receptors to regulate a variety of location-specific and selective functions such as hormone inhibition, neurotransmission and cell proliferation. SST plays a potent role in the regulation of both insulin and glucagon secretion in response to changes in glucose levels by negative feedback mechanism. The half-life of SST is only 1–3 min due to quick degradation by peptidases in plasma and tissues. Thus, a direct continuous intravenous or subcutaneous infusion is required to achieve the therapeutic effect. These limitations prompted the discovery of SST analogues such as octreotide and lanreotide, which have longer half-lives and therefore can be administered as injections. SST analogues are used to treat different forms of HH in children and adults and therapeutic effect is achieved by suppressing insulin secretion from pancreatic β-cells by complex mechanisms. These treatments are associated with several side effects, especially in the newborn period, with necrotizing enterocolitis being the most serious side effect and hence SS analogues should be used with extreme caution in this age group.

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Congenital hyperinsulinism: management and outcome, a single tertiary centre experience

Cited by 9 publications

References 22 publications

Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience

Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia

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