Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study
Rattachement africain : it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
INTRODUCTION: To evaluate and describe the diagnostic process, medical, nutritional, and surgical approach, and neurological outcome, we report data from a large Italian cohort of patients with congenital hyperinsulinism (CHI). METHODS: We retrospectively analyzed 154 CHI patients admitted to Ospedale Pediatrico Bambino Gesù from 1985 to 2022. RESULTS: Hypoglycemia occurred within the first year of life in 85.5% of patients, median time to diagnosis was 1 day (IQR 14 days). Ninety-two percent of patients were treated with diazoxide: 66.9% were responsive. Octreotide was administered to 28.6% of patients: 61.4% were responsive. Forty percent of patients were off-therapy, mostly from diazoxide. Thirty-four percent of patients carried mutations in ABCC8, 12.6% were syndromic, and 9.2% were transient CHI. Surgery was performed in 23/47 diazoxide-unresponsive and 2/95 diazoxide-responsive patients: 64.0% were focal at histology. Combining data from genetics, pancreatic venous sampling, 18F-DOPA PET/CT, and histology, 80.6% resulted diffuse, 16.7% focal, and 2.8% atypical CHI. Post-surgical diabetes developed in 6 patients. Neurocognitive evaluation revealed developmental delay or intellectual disability in 15.7% of 70 patients, mostly of a mild degree. Epilepsy was documented in 13.7% of 139 patients. CONCLUSION: Our diagnostic and therapeutic results are mainly consistent with the international indications and the CHI Global Registry data, with relatively low rates of neurological outcomes. Good outcomes were likely associated with early diagnosis and prompt management of patients because the majority of patients were diagnosed within 2 weeks. Remarkably, it is of utmost importance to spread the knowledge and refer CHI patients to multidisciplinary expert centers.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study
- Date Crossref
- 28/05/2024
- Éditeur
- S. Karger AG
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Bambino Gesù Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Istituti di Ricovero e Cura a Carattere Scientifico pays non établi dans la noticeÉtablissement de santé
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University of Rome Tor Vergata pays non établi dans la noticeUniversité ou école supérieure
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Division of Metabolism pays non établi dans la noticeInstitution
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Academic Department of Pediatrics (DPUO) pays non établi dans la noticeInstitution
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Residency School of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Nutritional Rehabilitation Unit pays non établi dans la noticeInstitution
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Unit of Clinical Psychology pays non établi dans la noticeÉtablissement de santé
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Laboratory of Medical Genetics pays non établi dans la noticeStructure de recherche
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Nuclear Medicine Unit pays non établi dans la noticeInstitution
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Unit of Hepato-biliary-pancreatic Surgery pays non établi dans la noticeInstitution
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Pathology Unit pays non établi dans la noticeInstitution
Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico et University of Rome Tor Vergata, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.