摘要
目的探讨先天性肾上腺皮质增生症（CAH，21-羟化酶缺乏）早期治疗的疗效。方法回顾性分析1997年至2011年出生，在6月龄内诊断并开始治疗的69例CAH患儿病史资料，了解早期治疗对患儿生长发育的影响，探讨治疗随访的评估指标。结果69例患儿于生后4～180d开始接受治疗，平均中位年龄47d；平均生长速率为（7．4±1．1）cm，年；末次随访中位年龄3．4岁（0．67～9．92岁），身高均位于正常儿童生长水平的第25-50百分位；76％患儿的骨龄接近实际年龄；预测男女患儿终身高分别为（168．9±8．5）cm和（155．4±8．0）cm，71％位于遗传靶身高范围内，优于以往报道的诊断和治疗年龄〉1岁患儿的终身高[（151．0±7．0）cm]；真性性早熟发生率为5．79％（4／69），低于以往报道≤3岁及〉3岁治疗者性早熟发生率（分别为14％及50％）；治疗期间电解质、促肾上腺皮质激素（ACTH），睾酮水平控制正常比例占86％-93％，17-羟孕酮波动较大；促肾上腺皮质激素、17-羟孕酮、睾酮呈正相关。结论早期治疗能改善CAH患儿的生长，降低性早熟发生率，提高终身高。
Objective To investigate the clinical effects of early diagnosis and treatment for the patients with congenital adrenal hyperplasia （CAH） due to 21-hydroxylase deficiency （21-OHD）. Methods Sixty-nine CAH patients who were born from June 1997 to March 2011 and diagnosed and treated within 6 months after birth, were enrolled to investigate the clinical effects of early treatment on growth and development of patients, and to explore the key evaluation indicators for the patients＇ follow-up. Results The median age of start of treatment was 47 days （4 to 180 days） after birth. The average growth velocity of 96 patients was （7.4±1.1） cm/y. The median age at the last visit was 3.4 （0.67-9.92） years old; the average height was within the 25th-50th percentile of normal children; 76% patients had normal bone age. The predicted final height was （168.9±8.5） cm in male patients and （155.4±8.0） cm in females respectively, with about 71% within their genetic target heights, which was superior to the predicted final height （151.0±7.0） cm in the patients diagnosed and treated after 1 year old in previous report. The incidence of central precocious puberty was 5.79% （4/69）, lower than that in previous report of the patients treated when they were either less than 3 years old （14%） or over 3 years old （50%）. During the treatment, the proportion of the patients with normal levels of electrolyte, ACTH and testosterone was 86%-93%, but there was a large fluctuation in 17-OH progesterone. ACTH was positively correlated with both 17-OH progesterone and testosterone. Conclusions Early diagnosis and treatment for patients with CAH could improve their growth and bone development, reduce the incidence of precocious puberty and achieve better final height.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2013年第1期36-39,共4页
Journal of Clinical Pediatrics
