印度的先天性肾上腺皮质增生症新生儿筛查：挑战与机遇
CAH Newborn Screening in India: Challenges and Opportunities.
作者信息
Dabas Aashima, Bothra Meenakshi, Kapoor Seema
机构信息
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi 110002, India.
出版信息
Int J Neonatal Screen. 2020 Aug 27;6(3):70. doi: 10.3390/ijns6030070.
Abstract
Congenital adrenal hyperplasia (CAH) is a common treatable disorder which is associated with life-threatening adrenal crisis, sexual ambiguity, and/or abnormal growth if undiagnosed. Newborn screening is a cost-effective tool to detect affected babies early after birth to optimize their treatment and follow-up. Newborn screening however is in its nascent stage in India where it is not yet introduced universally for all babies. The following review briefly highlights the challenges (e.g., lack of universal screening, healthcare resources) and opportunities (e.g., reduction in morbidity and early correct gender assignment in females) associated with newborn screening for CAH in a large Indian birth cohort.
摘要
先天性肾上腺增生症（CAH）是一种常见的可治疗疾病，如果未被诊断出来，会引发危及生命的肾上腺危象、性征模糊和/或生长异常。新生儿筛查是一种具有成本效益的工具，可在婴儿出生后尽早检测出患病婴儿，以优化其治疗和随访。然而，新生儿筛查在印度尚处于起步阶段，尚未在所有婴儿中普遍推行。以下综述简要强调了在印度这样一个庞大的出生队列中，对CAH进行新生儿筛查所面临的挑战（如缺乏普遍筛查、医疗资源）和机遇（如降低发病率以及对女性进行早期正确的性别指定）。
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