Developmental Endocrinology, Metabolism, Genetics and Endocrine Oncology Affinity Group, Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Clin Endocrinol (Oxf). 2024 Nov;101(5):446-454. doi: 10.1111/cen.14955. Epub 2023 Jul 28.
Paediatric phaeochromocytomas and paragangliomas (PPGLs), though rare tumours, are associated with significant disability and death in the most vulnerable of patients early in their lives. However, unlike cryptogenic and insidious disease states, the clinical presentation of paediatric patients with PPGLs can be rather overt, allowing early diagnosis, granted that salient findings are recognized. Additionally, with prompt and effective intervention, prognosis is favourable if timely intervention is implemented. For this reason, this review focuses on four exemplary paediatric cases, succinctly emphasizing the now state-of-the-art concepts in paediatric PPGL management.
儿科嗜铬细胞瘤和副神经节瘤(PPGLs)虽然是罕见的肿瘤,但在生命早期最脆弱的患者中,与显著的残疾和死亡相关。然而,与隐匿性和隐伏性疾病状态不同,PPGL 患儿的临床表现可能相当明显,如果能够识别出显著的发现,就可以早期诊断。此外,如果及时进行有效的干预,预后是有利的。因此,本综述重点介绍了四个典型的儿科病例,简明扼要地强调了儿科 PPGL 管理方面的最新概念。