背景:为了评估和描述诊断过程,medical,营养和手术方法,和神经系统的结果,我们报告了来自意大利一个庞大的先天性高胰岛素血症(CHI)患者队列的数据.
方法:我们回顾性分析了1985年至2022年OspedalePediatricoBambinoGesto的154例CHI患者。
结果:85.5%的患者在生命的第一年内发生低血糖,中位诊断时间为1天(IQR14天).92%的患者接受了二氮嗪治疗,66.9%有反应。28.6%的患者服用奥曲肽,61.4%有反应。40%的患者不接受治疗,主要来自二氮嗪。34%的患者携带ABCC8突变,12.6%为综合征,和9.2%是暂时性CHI。在23/47二氮嗪无反应和2/95二氮嗪反应的患者中进行了手术:64.0%的患者在组织学上是局灶性的。结合遗传学的数据,胰腺静脉取样,18F-DOPAPET/CT和组织学,80.6%导致弥漫性,16.7%病灶,和2.8%的非典型CHI。6例患者发生术后糖尿病。神经认知评估显示70例患者中有15.7%的患者出现发育迟缓或智力障碍,大多是轻度的。139例患者中有13.7%的癫痫记录。
结论:我们的诊断和治疗结果主要与国际适应症和CHI全球注册数据一致,神经系统结局率相对较低。良好的结果可能与患者的早期诊断和及时治疗有关,因为大多数患者在2周内被诊断出来。值得注意的是,传播知识并将CHI患者推荐到多学科专家中心至关重要.
BACKGROUND: 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.
CONCLUSIONS: 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.