摘要
目的探讨新生儿期先天性肾上腺皮质增生症（congenital adrenalhyperplasia，CAH）的临床特点、诊断及治疗，提高对21羟化酶缺陷型CAH的认识。方法回顾性分析2004年1月至2011年8月我院收治的19例确诊新生儿CAH的临床资料，总结其早期临床表现，根据血17羟孕酮、睾酮、孕酮、皮质醇及促。肾上腺皮质激素（adrenocorticotropichormone，ACTH）水平进行诊断和激素治疗，比较激素治疗前后患儿血钠、血钾变化。结果21羟化酶缺乏失盐型CAH14例，均发生肾上腺危象，单纯男性化型5例。19例（100％）患儿皮肤黏膜色素加深，拒乳、反应差、喂养困难15例，入院体重较出生体重下降8例，频繁呕吐、腹泻5例。激素治疗后失盐型患儿低钠血症[（110．2±9．5）mmol/Lvs（138．7±5．2）mmol／L]及高钾血症[（7．40±1．59）mmol／Lvs（4．40±0．69）mmol／L]有明显改善（P均〈0．01）。结论应提高对新生儿CAH的认识和诊断水平，21羟化酶缺乏容易发生。肾上腺危象，应通过早期的临床表现及必要的生化检查尽早诊断该病，激素治疗有明确的疗效。
Objective To investigate clinical features, diagnosis and treatment of congenital adrenal hyperplasia （CAH） and to improve the knowledge of 21-hydroxylase deficiency form in CAH. Methods Ninteen neonatal CAH cases admitted to the neonatal intensive care unit of Shenzhen Children＇s Hospital from Jan 2004 to Aug 2011 were reviewed retrospectively. According to the early clinical manifestations, the serum levels of 17 -hydroxyprogesterone, testosterone, progesterone, cortisol and adrenocorticotropic hormone （ ACTH）, early diagnosis was drawn and they were given to the glucocorticoid therapy. The alterations of blood sodium and potassium were compared before and after glucocorticoid therapy. Results Fourteen cases of 21-hydroxylase deficiency were salt-losing form who all were complicated with adrenal crisis and five cases were simple virilizing form. All CAH newborns（ 19 cases） appeared dark color of skin and mucosa. Fifteen cases had resistence to milk,poor response and feeding problem. The weight of eight cases at admission were lower than birth weight. Five cases suffered from repeating vomiting and diarrhea. After glucocorticoid therapy, there were significant improvement of hyponatremia [ （ 110. 2 ± 9. 5 ） mmol/L vs （ 138.7 ± 5.2） mmol/L ] and hyperkalemia[ （7.40 ± 1.59） mmol/L vs （4. 40 ±0.69） mmol/L] （P both 〈0.05）. Conclusion We should raise the knowledge and level of diagnosis of neonatal CAH. We should diagnose the salt-losing form of 21 hydroxylase deficiency which is highly complicated with adrenal crisis through specific clinical manifestations and necessary biochemical assay as early as possible. The glucosteroid therapy is effective.
出处
《中国小儿急救医学》
CAS
2013年第1期55-57,共3页
Chinese Pediatric Emergency Medicine
