BACKGROUND Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expenditures, peripheral insulin resistance, hypoadiponectinaemia, leptin and ghrelin impairments, hypolipidaemia, linear growth deceleration and growth hormone deficiency, delayed puberty, hypocalcaemia and vitamin D deficiency. Specific treatments for GD such as enzyme replacement therapy and substrate reduction therapy display significant effects on the metabolic profile of GD patients. Hormonal and metabolic disturbances observed in both adult and paediatric patients with Gaucher disease type 1 (GD1) are discussed in this review. The PubMed database was used to identify articles on endocrine and metabolic disorders in GD1. GD1 appears to facilitate the development of disorders of nutrition, glucose metabolism and vitamin D insufficiency. Metabolic and hormonal diseases may have a significant impact on the course of the underlying disease and patient quality of life. CONCLUSIONS Conditions relating to hormones and metabolism can be wide-ranging in GD1. Obtained findings were intrinsic to GD either as a deleterious process or a compensatory response and some changes detected may represent co-morbidities. Actively seeking and diagnosing endocrine and metabolic disorders are strongly recommended in GD1 patients to optimize healthcare.

中文翻译：

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高雪氏病1型患者的内分泌和代谢异常：综述。

背景高雪氏病（GD）是最普遍的溶酶体贮积病之一，与激素和代谢异常有关，包括营养状况异常，高静息能量消耗的代谢过度状态，外周胰岛素抵抗，低脂联素血症，瘦素和生长素释放肽受损，血脂异常，线性增长减速和生长激素缺乏症，青春期延迟，低血钙症和维生素D缺乏症。GD的特定治疗（例如酶替代疗法和底物减少疗法）对GD患者的代谢状况显示出显着影响。在这篇综述中讨论了在成人和小儿患有高雪氏病1型（GD1）的成人和儿科患者中观察到的激素和代谢紊乱。PubMed数据库用于识别有关GD1内分泌和代谢异常的文章。GD1似乎促进了营养，葡萄糖代谢和维生素D功能不足疾病的发展。代谢和激素疾病可能对基础疾病的病程和患者的生活质量产生重大影响。结论GD1中与激素和代谢有关的疾病范围很广。获得的发现是GD固有的有害过程或补偿性反应，检测到的某些变化可能代表合并症。强烈建议在GD1患者中积极寻找和诊断内分泌和代谢异常，以优化医疗保健。代谢和激素疾病可能对基础疾病的病程和患者的生活质量产生重大影响。结论GD1中与激素和代谢有关的疾病范围很广。获得的发现是GD固有的有害过程或补偿性反应，检测到的某些变化可能代表合并症。强烈建议在GD1患者中积极寻找和诊断内分泌和代谢异常，以优化医疗保健。代谢和激素疾病可能对基础疾病的病程和患者的生活质量产生重大影响。结论GD1中与激素和代谢有关的疾病范围很广。获得的发现是GD固有的有害过程或补偿性反应，检测到的某些变化可能代表合并症。强烈建议在GD1患者中积极寻找和诊断内分泌和代谢异常，以优化医疗保健。