21-羟化酶缺乏导致典型先天性肾上腺增生的治疗障碍。

IF 5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Kelsey B Eitel, Patricia Y Fechner
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引用次数: 0

摘要

21-羟化酶缺乏引起的典型先天性肾上腺增生症(CAH)是一种罕见的遗传病,需要从出生开始终身治疗。CAH患者及其家庭通常面临结构性障碍,难以获得全面的护理和治疗,包括获得适当的新生儿筛查、综合护理中心和药物治疗的机会有限。社会和文化障碍可能包括污名化、歧视和不良的医疗经历。在个人和家庭层面,综合护理可能受到教育、财政、医疗保健覆盖面、地理位置和缺乏社会支持的影响。对于生活在资源不足国家的个人来说,这些障碍往往会进一步放大。无法充分获得全面护理和药物会增加危及生命的肾上腺危机和疾病相关合并症的风险。这篇综述文章考察了当前的结构、社会文化和个体障碍,这些障碍是CAH患者及其家庭在一生中管理病情时可能面临的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare genetic condition that requires lifelong management from birth. Individuals with CAH and their families often face structural barriers to obtaining comprehensive care and treatment, including limited access to appropriate newborn screening, comprehensive care centers, and medications. Social and cultural barriers to care may include stigmatization, discrimination, and adverse medical experiences. At the individual and family level, comprehensive care may be affected by education, finances, health-care coverage, geographic location, and lack of social supports. These barriers are often further magnified for individuals living in underresourced countries. Inadequate access to comprehensive care and medications increases the risk of life-threatening adrenal crisis and disease-related comorbidities. This review article examines the current structural, sociocultural, and individual barriers that individuals with CAH and their families may face when managing their condition throughout their lifetime.

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来源期刊
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢
CiteScore
11.40
自引率
5.20%
发文量
673
审稿时长
1 months
期刊介绍: The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.
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