医药-新生儿先天性肾上腺皮质增生症20例临床分析解析.pdf

# 216# 2010 25 4 # # 20 丁翊君 林影 王亚娟 邵芳 = 探讨新生儿期先天性肾上腺皮质增生症( CA )的临床特点 断及治疗 选择 2002年 2月至 2009年 6月本院新生儿病房收治的 CA 患儿,总结其临床表现血钾血 钠血 17羟孕酮睾酮雌二醇及肾上腺 B超等特点, 进行 断及分型,分析其激素治疗和预后情 况 共收治 20例 CA , 21羟化酶缺乏失盐型 11例,单纯男性化型 9例10例出现肾上腺 危象1例确 后放弃治疗, 余 19例好转出院随访 10例, 其中3例感染后病情加重, 再次住院 治疗; 3例继续应用小剂量激素维持, 感染后无明确病情加重; 2例已停止应用激素, 除皮肤黑外, 其 余生长发育均正常, 感染后亦无病情加重; 2例死亡失访 10例 新生儿期 CA 以 21羟 化酶缺乏最为常见, 易发生肾上腺危象,激素治疗有效, 部分患儿是否不需终身服用激素值得探讨 = 先天性肾上腺皮质增生症; 类固醇 21羟化酶; 婴儿,新生 C linical ana ly ses of 20 n ewborn cases w ith congen ital adrenal hyperp lasia D I N G Yi-j un, LI N Ying, WAN G Ya-j uan, SHA O Fang 1 N eonatal C enter, B eij ing Ch ildren s H osp ital A iliated to Cap ital Univers ity o M edical Sc ience, B eij ing 100045, Ch ina Corresp onding author: D ING Yi-j un, Em ail: d ing _876@ m sn1com =Ab stract Objective To investigate clinical features, diagnosis and treatment of neonatal congenitaladrenalhyperplasia (CA ) 1M ethods All cases of neonatalCA admitted to the neonatal center in Beijing Childrenps ospital from February 2002 to June2009were included for this study1 The clinicalmanifestations, serum test results and adrenalultrasound of each case are summarized to diagnose and sub-type to evaluate thehormone treatment and prognosis1 Resu lts Among the20 cases of CA , 11 caseswere sub-typed as21-hydroxylasedeficiency salt-losing form, and 9 cases as smi plevirilizing form1 10 cases of CA have been presented as adrenal crises1 After treatment, 19 cases showed clinical mi provement andweredischarged; one case refused treatment after diagnosis1 Therewere 10 cases under follow-up, and 10 ca