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  本文選題：新生兒　切入點：先天性腎上腺皮質(zhì)增生癥　出處：《重慶醫(yī)科大學(xué)》2013年碩士論文　論文類型：學(xué)位論文

【摘要】：目的：分析疑診新生兒先天性腎上腺皮質(zhì)增生癥（CAH）患兒的臨床表現(xiàn)、體征、輔助檢查及預(yù)后情況，總結(jié)其在新生兒期CAH診斷中的意義，，以期提高臨床醫(yī)師對新生兒CAH的初步診斷率和確診率以盡早進行干預(yù)治療。 方法：收集重慶醫(yī)科大學(xué)附屬兒童醫(yī)院新生兒科2002年11月—2012年12月因發(fā)現(xiàn)皮膚色素沉著較深而疑診為新生兒CAH的90例患兒的臨床資料，其中39例資料不完整予以剔除。取資料相對完整的51例患兒進行回顧性分析：其中10例患兒出院時確診（確診組），41例患兒出院時未確診（未確診組）。比較兩組患兒臨床表現(xiàn)、體征、實驗室檢查等方面的差異，進行相關(guān)性分析。 結(jié)果：10例確診患兒均有較明顯的皮膚色素沉著，5例存在外生殖器異常，1例性別判斷錯誤，3例有多毛表現(xiàn)，10例患兒均有不同程度的電解質(zhì)紊亂及17-羥孕酮、皮質(zhì)醇、ACTH、睪酮的水平測定異常，2例低血糖，2例患兒腎上腺影像學(xué)檢查異常。體征上，確診組患兒乳暈的色素沉著率、外生殖器異常率高于未確診組（P＜0.05）。臨床癥狀上，確診組患兒體重不增或降低的發(fā)生率高于未確診組（P＜0.05）。實驗室檢查方面，確診組患兒的低鈉血癥及低氯血癥發(fā)生率高于未確診組（P＜0.05）；而兩組患兒發(fā)生高鉀血癥、代謝性酸中毒的概率的差異無統(tǒng)計學(xué)意義（P＞0.05）；在17-羥孕酮、ACTH、睪酮的平均水平上，確診組亦明顯高于未確診組（P＜0.05）。 結(jié)論：CAH在皮膚色素沉著的新生兒中的發(fā)病率較高。在體征上，乳暈的色素沉著對其診斷的意義較外陰、牙齦色素沉著大。外生殖器畸形在經(jīng)典型CAH患兒的臨床診斷中意義重大。在臨床癥狀上，新生兒體重不增或下降對CAH的診斷較嘔吐、腹瀉、喂養(yǎng)困難、脫水、抽搐等表現(xiàn)意義更大。在實驗室檢查方面，新生兒期發(fā)生低鈉血癥、低氯血癥對新生兒CAH的臨床診斷意義比高鉀血癥、代謝性酸中毒的更有意義。17-OHP、ACTH、總睪酮等特異性檢查在診斷中起著決定性的作用。腎上腺影像學(xué)檢查的陽性率約為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%.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2013
【分類號】：R722.1

【參考文獻】

相關(guān)期刊論文 前1條

1 周劍;戴新華;李紅梅;弓愛君;;血清中17α-羥孕酮的測定方法及其研究進展[J];化學(xué)分析計量;2012年02期

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