Hyperinsulinisme congénital révélé par une mort inattendue de l’enfant

Guyot, Anne; Moreau, Fanny; Eberhard, Maxime; Gaulier, Jean‐Michel; Paraf, François

doi:10.1016/j.annpat.2017.07.003

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…3 One of the causes of hypoglycemia in infancy and childhood is HI which is accompanied by high mortality and morbidity rate and leads to irreversible neurological damage. [4][5][6][7][8][9] In the majority of countries, the disease rate varies from one in 50 000 to one in 25 000 births. HI is diagnosed in nearly 60% of neonates in the first month of life.…”

Section: Introductionmentioning

confidence: 99%

Clinical Course and Outcome in Children with Congenital Hyperinsulinism

2022

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Background: Hyperinsulinism is the most common cause of persistent or recurrent neonatal hypoglycemia that may result in neurological deficits. The treatment goal in these patients is prevention of hypoglycemia to decrease mortality and morbidity. This study was done to determine the clinical course and outcome in children with congenital hyperinsulinism (CHI) referring to Mofid Children’s Hospital from 2011 to 2017. Methods: This study was done on 22 children with CHI referring to Mofid Children’s Hospital from 2011 to 2017. The demographic, perinatal, clinical, laboratory, imaging, pharmacological, treatment and follow up data of these children were collected and analyzed. Results: Among 22 children with CHI, the mortality rate was higher among those who received hydrocortisone versus those who did not receive hydrocortisone (46% versus 40%). Conclusion: According to the results of this study, hydrocortisone had a negative impact on the outcomes of these children, which is important in the management of hypoglycemia. The clinical course and outcome of children with CHI was better with medical compared to surgical treatment.

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Section: Introductionmentioning

confidence: 99%

Clinical Course and Outcome in Children with Congenital Hyperinsulinism

2022

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“…Congenital Hyperinsulinism in Infancy (CHI), a rare disorder, arises from inappropriate insulin release for the level of glycaemia. Despite advances in genetic testing and management strategies, CHI carries significant morbidity and mortality associated with hypoglycaemia-induced brain injury and adverse long-term neurological outcomes ( 1 – 6 ). The hypoglycaemia can be unresponsive to dietary and medical interventions with diazoxide, somatostatin analogs and other medications necessitating focal lesionectomy, partial or near-total pancreatectomy ( 7 – 10 ).…”

Section: Introductionmentioning

confidence: 99%

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions

et al. 2018

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Background: Congenital Hyperinsulinism (CHI) is an important cause of severe and persistent hypoglycaemia in infancy and childhood. The focal form (CHI-F) of CHI can be potentially cured by pancreatic lesionectomy. While diagnostic characteristics of CHI-F pancreatic histopathology are well-recognized, correlation with clinical phenotype has not been established.Aims: We aimed to correlate the diversity in clinical profiles of patients with islet cell organization in CHI-F pancreatic tissue.Methods: Clinical datasets were obtained from 25 patients with CHI-F due to ABCC8/KCNJ11 mutations. 18F-DOPA PET-CT was used to localize focal lesions prior to surgery. Immunohistochemistry was used to support protein expression studies.Results: In 28% (n = 7) of patient tissues focal lesions were amorphous and projected into adjoining normal pancreatic tissue without clear delineation from normal tissue. In these cases, severe hypoglycaemia was detected within, on average, 2.8 ± 0.8 (range 1–7) days following birth. By contrast, in 72% (n = 18) of tissues focal lesions were encapsulated within a defined matrix capsule. In this group, the onset of severe hypoglycaemia was generally delayed; on average 46.6 ± 14.3 (range 1–180) days following birth. For patients with encapsulated lesions and later-onset hypoglycaemia, we found that surgical procedures were curative and less complex.Conclusion: CHI-F is associated with heterogeneity in the organization of focal lesions, which correlates well with clinical presentation and surgical outcomes.

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Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

Güemes

Rahman

Kapoor

et al. 2020

Rev Endocr Metab Disord

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Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release, leading to persistently low blood glucose concentrations with lack of alternative fuels, which increases the risk of neurological damage in these patients. It is the most common cause of persistent and recurrent hypoglycemia in the neonatal period. HH may be primary, Congenital HH (CHH), when it is associated with variants in a number of genes implicated in pancreatic development and function. Alterations in fifteen genes have been recognized to date, being some of the most recently identified mutations in genes HK1, PGM1, PMM2, CACNA1D, FOXA2 and EIF2S3. Alternatively, HH can be secondary when associated with syndromes, intra-uterine growth restriction, maternal diabetes, birth asphyxia, following gastrointestinal surgery, amongst other causes. CHH can be histologically characterized into three groups: diffuse, focal or atypical. Diffuse and focal forms can be determined by scanning using fluorine-18 dihydroxyphenylalanine-positron emission tomography. Newer and improved isotopes are currently in development to provide increased diagnostic accuracy in identifying lesions and performing successful surgical resection with the ultimate aim of curing the condition. Rapid diagnostics and innovative methods of management, including a wider range of treatment options, have resulted in a reduction in co-morbidities associated with HH with improved quality of life and long-term outcomes. Potential future developments in the management of this condition as well as pathways to transition of the care of these highly vulnerable children into adulthood will also be discussed.

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Hyperinsulinisme congénital révélé par une mort inattendue de l’enfant

Cited by 3 publications

References 5 publications

Clinical Course and Outcome in Children with Congenital Hyperinsulinism

Clinical Course and Outcome in Children with Congenital Hyperinsulinism

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

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