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Genetic and Clinical Characteristics of Pediatric Primary Hyperparathyroidism
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摘要: 原发性甲状旁腺功能亢进症（primary hyperparathyroidism，PHPT）在成年期前发病较为罕见。未成年患者中，遗传性PHPT占比较高。具体而言，婴幼儿患者多携带与钙敏感受体信号通路相关的基因突变，而儿童及青少年患者则以细胞增殖相关基因突变为主。值得注意的是，婴幼儿、儿童及青少年PHPT在遗传背景、临床表现、治疗方案及预后等方面均与成人PHPT患者存在显著差异。本文旨在系统总结未成年起病PHPT的遗传学特征及临床特点，以提升对该疾病的认识水平。
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关键词:
- 原发性甲状旁腺功能亢进症 /
- 儿童 /
- 青少年 /
- 婴幼儿 /
- 遗传学
Abstract: Primary hyperparathyroidism (PHPT) is relatively rare in individuals before adulthood. Among juvenile patients, hereditary PHPT accounts for a significant proportion. Specifically, infant and toddler patients often carry gene mutations related to the calcium-sensing receptor signaling pathway, whereas children and adolescent patients predominantly exhibit mutations in genes associated with cell proliferation. Notably, PHPT in infants, children, and adolescents differs significantly from that in adult patients in terms of genetic background, clinical manifestations, treatment strategies, and prognosis. This article aims to systematically summarize the genetic characteristics and clinical features of juvenile-onset PHPT to enhance the understanding of this disease.-
Keywords:
- primary hyperparathyroidism /
- children /
- adolescents /
- infants and toddlers /
- genetics
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