【作者】 王玉；

【导师】 林汉华；

【作者基本信息】 华中科技大学 ， 儿科遗传代谢内分泌， 2006， 硕士

【摘要】 目的提高对先天性肾上腺皮质增生症(CAH)的临床认识,争取做到早期诊断,合理治疗,减少漏诊和误诊,避免严重的并发症,提高患儿生活质量。方法回顾性分析了12年来33例CAH的病因、临床症状、体征和相关检查,讨论误诊原因和临床诊断要点。结果(1)临床误诊率高,达30.3%,误诊时间4天至5年。(2)临床诊断为两型:①21-羟化酶缺乏症(21-OHD),占CAH的93.9%②11β-羟化酶缺乏症(11β-OHD),占6.1%。(3)临床症状以男性患儿性早熟、女性患儿假两性畸形为主,21-OHD失盐型患儿有代谢性酸中毒和电解质紊乱,11β-OHD患儿有高血压。结论CAH在儿童期并非罕见,临床误诊率高,需提高警惕。临床表现复杂多样。CAH诊断应从临床表现、实验室检查和基因分析三方面综合评价,现阶段以临床诊断为主。更多还原

【Abstract】 Object Congenital adrenal hyperplasia(CAH) is a family of inborn disorders of steroidogenesis.In patients with CAH presenting with specific enzyme deficiency,the correct diagnosis is often missed and delayed.The aim of the study is to improve diagnosis of CAH,and to avoid the happening of severe complications, thereby to improve the patients’life quality.Methods 33 patients with CAH were studied with respect to etiology,clinical manifestation,relevant laboratory examinations,mistaken diagnosis and the keypoint of diagnosisResults 1.Mistaken diagnosis rate of CAH is over 30%, and it is should be paid special attention.2. Clinical types: typeⅠ, which is charactized by 21-hydroxylase deficiency, is 93.9% of the cases; typeⅡ, which is charactized by 11β-hydroxylase deficiency, is 6.1%. 3. Correctly identifying the form of CAH is achieved by the observation of clinical syndromes reflecting distinct hormonal patterns.In the severe, or classical form of CAH owing to 21-hydroxylase deficiency (21-OHD), adrenal androgen overproduction causes prenatal virilization in females and continued masculinization postnatally in both sexes.In salt-wasting type of 21-OHD patients are also found metabolic acidosis and electrolyte disturbance.Hypertension is observe in patient with 11β-OHD.Conclusion CAH is not rare in the childhood and the high prevalences of mistaken diagnosis rate shoulds be paid great attention to. Clinical manifestation of CAH is complicated. Diagnosis of CAH should be taken from three ways: clinical symptoms, laboratory examinations and gene analysis. At the present stage, clinical diagnosis is definitive.更多还原