目的 嗜铬细胞瘤和副神经节瘤（PPGL）是罕见的神经内分泌肿瘤，本研究旨在通过对儿童和青少年PPGL初诊及复发转移时临床特征及致病基因的分析，为该病的诊疗提供依据。方法 回顾性分析2014年1月至2024年10月收治的41例儿童和青少年转移性PPGL患儿初诊及复发转移后的临床资料、实验室指标及基因特征，比较初发和复发患儿临床表现及预后的差异。结果 儿童和青少年转移性PPGL初诊和复发转移时均以高血压（76.9%、80.6%）为常见表现，但初诊时以阵发性高血压为主（56.7%），复发转移时则以持续性高血压占优（80.0%），差异有统计学意义（P=0.008）；此外，头痛、典型三联征、恶心/呕吐、乏力在初诊与复发转移阶段的发生率差异均有统计学意义（P均<0.05）。实验室检查显示，初诊与复发转移时尿儿茶酚胺异常均以尿去甲肾上腺素升高最为突出（分别为86.5%、90.3%），且初诊与复发转移时，尿儿茶酚胺存在两项及以上异常的患儿比例均超50%（分别为54.1%、54.8%）。复发转移部位以淋巴结最为常见（68.3%），且80.5%患儿的复发转移部位≥2个。64.5%的PPGL患儿携带致病基因变异，其中以SDHB突变最为多见（45.2%）。携带明确基因变异组患儿的中位无进展生存期（PFS）为42个月，显著短于未检出基因变异组（115个月），差异有统计学意义（χ²=4.91，P=0.027）。结论 儿童和青少年转移性PPGL初诊与复发转移阶段均以高血压为核心表现，但高血压类型存在明显差异；复发转移多呈现多灶、多部位特点；致病基因变异可能与患儿长期预后相关，后续需更大样本量、更长随访周期的队列研究进一步验证。

Objective To analyze the clinical characteristics and genetic phenotypes of children and adolescents with metastatic pheochromocytoma and paraganglioma (PPGL) at initial diagnosis and recurrence or metastasis. Methods A retrospective analysis was conducted on the clinical data, catecholamine levels, and genetic characteristics of 41 children and adolescents with metastatic PPGL at the initial diagnosis and after recurrence and metastasis, who were admitted to the hospital from January 2014 to October 2024. Results Hypertension was the most common manifestation at both the initial diagnosis (76.9%) and recurrence and metastasis (80.6%) of PPGL in children and adolescents. However, paroxysmal hypertension was more common at the initial diagnosis (56.7%), while persistent hypertension was more prevalent at recurrence and metastasis (80.0%), with a statistically significant difference (P=0.008). The incidence rates of headache, typical triad, nausea/vomiting, and fatigue were significantly different between the initial diagnosis and recurrence and metastasis stages (all P<0.05). Laboratory tests showed that abnormal urine catecholamines were most prominently characterized by elevated urine norepinephrine (NE) at both the initial diagnosis (86.5%) and recurrence and metastasis (90.3%), and the proportion of patients with two or more abnormal urine catecholamines was over 50% in both stages (54.1% and 54.8%, respectively). Lymph nodes were the most common site of recurrence and metastasis (68.3%), and 80.5% of the patients had two or more sites of recurrence and metastasis. 64.5% of the PPGL patients carried pathogenic gene variations, with SDHB mutations being the most common (45.2%). The median progression-free survival (PFS) of the group with clear gene variations was 42 months, significantly shorter than that of the group without detected gene variations (115 months), with a statistically significant difference (χ²=4.91, P=0.027). Conclusion Hypertension is the core manifestation of PPGL in children and adolescents at both the initial diagnosis and recurrence and metastasis stages, but the types of hypertension are significantly different. Recurrence and metastasis often present as multifocal and multi-site. Pathogenic gene variations may be related to the long-term prognosis of children, and further validation is needed through larger sample sizes and longer follow-up periods in future cohort studies.