当前位置:主页 > 医学论文 > 儿科论文 >

新生儿先天性肾上腺皮质增生症临床诊断因素分析

发布时间:2018-03-19 16:40

  本文选题:新生儿 切入点:先天性肾上腺皮质增生症 出处:《重庆医科大学》2013年硕士论文 论文类型:学位论文


【摘要】:目的:分析疑诊新生儿先天性肾上腺皮质增生症(CAH)患儿的临床表现、体征、辅助检查及预后情况,总结其在新生儿期CAH诊断中的意义,,以期提高临床医师对新生儿CAH的初步诊断率和确诊率以尽早进行干预治疗。 方法:收集重庆医科大学附属儿童医院新生儿科2002年11月—2012年12月因发现皮肤色素沉着较深而疑诊为新生儿CAH的90例患儿的临床资料,其中39例资料不完整予以剔除。取资料相对完整的51例患儿进行回顾性分析:其中10例患儿出院时确诊(确诊组),41例患儿出院时未确诊(未确诊组)。比较两组患儿临床表现、体征、实验室检查等方面的差异,进行相关性分析。 结果:10例确诊患儿均有较明显的皮肤色素沉着,5例存在外生殖器异常,1例性别判断错误,3例有多毛表现,10例患儿均有不同程度的电解质紊乱及17-羟孕酮、皮质醇、ACTH、睾酮的水平测定异常,2例低血糖,2例患儿肾上腺影像学检查异常。体征上,确诊组患儿乳晕的色素沉着率、外生殖器异常率高于未确诊组(P<0.05)。临床症状上,确诊组患儿体重不增或降低的发生率高于未确诊组(P<0.05)。实验室检查方面,确诊组患儿的低钠血症及低氯血症发生率高于未确诊组(P<0.05);而两组患儿发生高钾血症、代谢性酸中毒的概率的差异无统计学意义(P>0.05);在17-羟孕酮、ACTH、睾酮的平均水平上,确诊组亦明显高于未确诊组(P<0.05)。 结论:CAH在皮肤色素沉着的新生儿中的发病率较高。在体征上,乳晕的色素沉着对其诊断的意义较外阴、牙龈色素沉着大。外生殖器畸形在经典型CAH患儿的临床诊断中意义重大。在临床症状上,新生儿体重不增或下降对CAH的诊断较呕吐、腹泻、喂养困难、脱水、抽搐等表现意义更大。在实验室检查方面,新生儿期发生低钠血症、低氯血症对新生儿CAH的临床诊断意义比高钾血症、代谢性酸中毒的更有意义。17-OHP、ACTH、总睾酮等特异性检查在诊断中起着决定性的作用。肾上腺影像学检查的阳性率约为50%。
[Abstract]:Objective: to analyze the clinical manifestations, physical signs, auxiliary examinations and prognosis of suspected neonates with congenital adrenocortical hyperplasia (CAH), and to summarize their significance in the diagnosis of neonatal CAH. In order to improve the initial diagnosis rate and diagnosis rate of neonatal CAH by clinicians, intervention treatment was carried out as soon as possible. Methods: the clinical data of 90 neonates suspected as neonatal CAH due to the discovery of skin pigmentation from November 2002 to December 2012 in children's hospital affiliated to Chongqing Medical University were collected. Among them, 39 cases of incomplete data were removed. 51 cases with relatively complete data were analyzed retrospectively. Among them, 10 cases were diagnosed at discharge (41 cases in the confirmed group were not diagnosed at discharge), and the clinical manifestations of the two groups were compared. Physical signs, laboratory examination and other aspects of the differences, the correlation analysis. Results there were obvious skin pigmentation in all 10 cases. One case had sex error, 3 cases had hirsutism and 10 cases had electrolyte disturbance and 17-hydroxyprogesterone. The levels of cortisol ACTH and testosterone were abnormal in 2 cases of hypoglycemia and 2 cases of hypoglycemia. Signs showed that the pigmentation rate of areola and the abnormal rate of external genitalia in the confirmed group were higher than those in the undiagnosed group (P < 0.05). The incidence of no weight gain or decrease in the confirmed group was higher than that in the undiagnosed group (P < 0.05). In laboratory examination, the incidence of hyponatremia and hypochloremia in the confirmed group was higher than that in the undiagnosed group (P < 0.05), while hyperkalemia occurred in the two groups. There was no significant difference in the probability of metabolic acidosis (P > 0.05), and the average level of testosterone and ACTH in 17 hydroxyprogesterone group was significantly higher than that in undiagnosed group (P < 0.05). Conclusion the incidence of the disease in infants with skin pigmentation is higher than that in the infants with skin pigmentation. In physical sign, areola pigmentation is more important than vulva in the diagnosis of skin pigmentation. Gingival pigmentation. External genital malformation is of great significance in the clinical diagnosis of classical CAH. In clinical symptoms, neonatal weight does not increase or decrease in the diagnosis of CAH than vomiting, diarrhea, feeding difficulties, dehydration, In laboratory examination, hyponatremia occurred in the newborn, and hypochloremia was more important in clinical diagnosis of neonatal CAH than hyperkalemia. The more significant of metabolic acidosis. 17-OHP- ACTH, total testosterone and other specific tests play a decisive role in the diagnosis. The positive rate of imaging examination of adrenal gland is about 50%.
【学位授予单位】:重庆医科大学
【学位级别】:硕士
【学位授予年份】:2013
【分类号】:R722.1

【参考文献】

相关期刊论文 前1条

1 周剑;戴新华;李红梅;弓爱君;;血清中17α-羟孕酮的测定方法及其研究进展[J];化学分析计量;2012年02期



本文编号:1635114

资料下载
论文发表

本文链接:https://www.wllwen.com/yixuelunwen/eklw/1635114.html


Copyright(c)文论论文网All Rights Reserved | 网站地图 |

版权申明:资料由用户7664a***提供,本站仅收录摘要或目录,作者需要删除请E-mail邮箱bigeng88@qq.com