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由于 21-羟化酶缺乏导致的先天性肾上腺皮质增生症中的健康问题。

Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

机构信息

Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

出版信息

Horm Res Paediatr. 2011;76(2):73-85. doi: 10.1159/000327794. Epub 2011 May 18.

Abstract

Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CAH have an increased risk to develop health problems during adult life, with signs and symptoms of forerunner conditions of adult disease already emerging during the time of paediatric care. Transition of paediatric CAH patients to medical care in the adult setting is an important step to ensure optimal lifelong treatment, aiming to achieve good health and normal life expectancy and quality of life. Thus, primary and secondary prevention of health problems has to become a task of increasing importance for those involved in the care of CAH patients throughout their life.

摘要

60 年前引入救命的糖皮质激素替代疗法后,先天性肾上腺皮质增生症(CAH)已从一种儿科疾病演变为一种终生的慢性疾病,影响所有年龄段的患者。越来越多的证据表明,CAH 患者在成年期患健康问题的风险增加,在儿科护理期间已经出现成年疾病前驱病症的迹象和症状。将儿科 CAH 患者过渡到成人医疗保健是确保最佳终生治疗的重要步骤,目的是实现良好的健康和正常预期寿命以及生活质量。因此,初级和二级预防健康问题必须成为参与 CAH 患者终生护理人员日益重要的任务。

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