Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health (NIH), Bethesda, MD, USA.
Expert Rev Endocrinol Metab. 2020 May;15(3):171-183. doi: 10.1080/17446651.2020.1749048. Epub 2020 May 6.
: Acromegaly and gigantism entail increased morbidity and mortality if left untreated, due to the systemic effects of chronic GH and IGF-1 excess. Guidelines for the diagnosis and treatment of patients with GH excess are well established; however, the presentation, clinical behavior and response to treatment greatly vary among patients. Numerous markers of disease behavior are routinely used in medical practice, but additional biomarkers have been recently identified as a result of basic and clinical research studies.: This review focuses on genetic, molecular and genomic features of patients with GH excess that have recently been linked to disease progression and response to treatment. A PubMed search was conducted to identify markers of disease behavior in acromegaly and gigantism. Markers already considered as part of routine studies in clinical care guidelines were excluded. Literature search was expanded for each marker identified. Novel markers not included or only partially covered in previously published reviews on the subject were prioritized.: Recognizing the most relevant markers of disease behavior may help the medical team tailoring the strategies for approaching each case of acromegaly and gigantism. This customized plan should make the evaluation, treatment and follow up process more efficient, greatly improving the patients' outcomes.
肢端肥大症和巨人症如果未经治疗,由于慢性 GH 和 IGF-1 过多的全身影响,会导致发病率和死亡率增加。GH 过多患者的诊断和治疗指南已经确立;然而,患者的表现、临床行为和治疗反应差异很大。在医疗实践中常规使用许多疾病行为标志物,但由于基础和临床研究,最近又确定了其他生物标志物。本文综述了最近与疾病进展和治疗反应相关的 GH 过多患者的遗传、分子和基因组特征。通过 PubMed 搜索确定了肢端肥大症和巨人症的疾病行为标志物。已排除已被认为是临床护理指南常规研究一部分的标志物。为每个确定的标志物扩展了文献搜索。优先考虑尚未包含在以前关于该主题的综述中或仅部分涵盖的新标志物。识别最相关的疾病行为标志物可以帮助医疗团队针对每个肢端肥大症和巨人症病例制定治疗策略。这种定制计划应使评估、治疗和随访过程更加高效,从而大大改善患者的预后。