Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Autor:	Tagliaferri F; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Iannuzzi R; Residency School of Pediatrics, Tor Vergata University of Rome, Rome, Italy.; Academic Department of Pediatrics (DPUO), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Canciani G; Residency School of Pediatrics, Tor Vergata University of Rome, Rome, Italy.; Academic Department of Pediatrics (DPUO), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bernabei SM; Nutritional Rehabilitation Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Campana C; Nutritional Rehabilitation Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Caviglia S; Unit of Clinical Psychology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Greco B; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Unit of Clinical Psychology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Pizzoferro M; Nuclear Medicine Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Garganese MC; Nuclear Medicine Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Spada M; Unit of Hepato-biliary-pancreatic Surgery, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Francalanci P; Pathology Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Dionisi-Vici C; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Maiorana A; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Jazyk:	angličtina
Zdroj:	Hormone research in paediatrics [Horm Res Paediatr] 2024 May 28, pp. 1-13. Date of Electronic Publication: 2024 May 28.
DOI:	10.1159/000538943
Abstrakt:	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. (© 2024 S. Karger AG, Basel.)
Databáze:	MEDLINE
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