6例Noonan綜合征臨床特點及治療效果分析
發(fā)布時間：2018-12-20 13:10
【摘要】：Noonan綜合征(Noonan syndrome,NS)是一種常染色體顯性遺傳性疾病,以身材矮小、特殊面容、先天性心臟病為主要表現(xiàn)。以往研究表明,重組人生長激素(Recombinant human growth hormone,rh GH)可顯著改善NS患者的終身高。但是目前尚無中國關(guān)于NS患者的臨床特點以及rh GH治療反應(yīng)的報道。本研究總結(jié)并分析了6例NS患者臨床特征及rh GH治療效果。針對2009年5月-2015年8月在北京協(xié)和醫(yī)院內(nèi)分泌科門診就診的6例疑似NS患者,進行一系列體格檢查、實驗室檢查及基因篩查。并且以0.10-0.15IU/kg*d劑量應(yīng)用rh GH,隨后進行定期隨訪。同時與年齡/性別相匹配的應(yīng)用rh GH的10例特納綜合征(Turner Sydrome,TS)和10例完全性生長激素缺乏癥(Growth Hormone Deficiency)患者進行比較,分析治療效果的差異。6例患者均存在NS的典型面容并可診斷為矮小癥,5例并合并先天性心臟病,4例存在骨骼系統(tǒng)發(fā)育異常及不同程度的骨齡落后。6例患者通過基因檢測均可明確診斷為NS,其中4例為PTPN11突變,1例KRAS突變,1例SOS1突變。5例經(jīng)rh GH治療后,年生長速度分別為:0個月(3.92±1.23)cm/y;3個月(8.36±2.57)cm/y;6個月(8.30±1.97)cm/y;9個月(9.33±4.46)cm/y;12個月(8.80±1.20)cm/y。除第9個月外,用藥后3、6、12個月的生長速度較用藥前顯著增加(P0.01)。在1年隨訪期內(nèi),除1例患者進入3-10th之間外,余4例患者身高仍低于3th。與NS年齡匹配的10例TS患者在用藥前及用藥后第3、6個月的生長速度均高于NS患者,NS在用藥前及用藥后第9、12個月的生長速度均高于TS患者,但以上差異均無統(tǒng)計學意義(P0.05)。10例TS患者中,用藥前有1例身高位于3~10th之間,余9例均3th,經(jīng)1年rh GH治療后,3例患者身高位于3~10th,余7例均3th;與NS年齡/性別相匹配的10例GHD患者在用藥后第3、6個月的生長速度顯著高于NS,差異有統(tǒng)計學意義(P0.05);GHD在用藥前及用藥后第9個月的生長速度均高于NS,而NS在用藥后第12個月生長速度高于GHD,但以上差異均無統(tǒng)計學意義(P0.05)。10例GHD患者中,用藥前有1例身高位于10~25th,1例位于3~10th,余8例均3th,經(jīng)1年rh GH治療后,3例患者身高從位于3th至3~10th,余7例百分位數(shù)保持不變。不良事件方面:6例NS、10例TS及10例GHD患者中,分別有2例、4例及2例在隨訪期出現(xiàn)了亞臨床甲狀腺功能減低,并及時應(yīng)用雷替斯25ug/d糾正甲狀腺功能。在隨訪期未發(fā)現(xiàn)rh GH相關(guān)的不良反應(yīng),如注射部位疼痛、皮疹、關(guān)節(jié)疼痛及血糖升高等。本研究中6例NS患者均存在不同程度的異常體征。NS、TS和GHD患者在應(yīng)用rh GH后,年生長速度均較前明顯增加且未出現(xiàn)嚴重不良反應(yīng)。比較三者rh GH療效可得出如下結(jié)論:NS與TS患者在rh GH方面療效相似,隨訪各點均無顯著性差異;但與年齡/性別相匹配的GHD患者相比,GHD患者在應(yīng)用rh GH后療效更顯著。
[Abstract]:Noonan syndrome (Noonan syndrome,NS) is an autosomal dominant hereditary disease characterized by short stature, special face and congenital heart disease. Previous studies have shown that recombinant human growth hormone (Recombinant human growth hormone,rh GH) can significantly improve lifetime height in NS patients. However, there are no reports on the clinical characteristics of NS patients and the response to rh GH therapy in China. This study summarized and analyzed the clinical features of 6 patients with NS and the therapeutic effect of rh GH. From May 2009 to August 2015, a series of physical examination, laboratory examination and gene screening were performed on 6 suspected NS patients in the Department of Endocrinology, Peking Union Hospital. Rh GH, was given at 0.10-0.15IU/kg*d dose and followed by regular follow-up. At the same time, 10 patients with Turner's syndrome (Turner Sydrome,TS) and 10 patients with complete growth hormone deficiency (Growth Hormone Deficiency) were compared with age / gender matched patients with rh GH. Six patients had typical facial appearance of NS and could be diagnosed as dwarfism, and 5 patients with congenital heart disease, 5 patients with congenital heart disease. There were 4 cases of abnormal development of bone system and different degrees of bone age backwardness. 6 patients were diagnosed as NS, by gene test, including 4 cases of PTPN11 mutation, 1 case of KRAS mutation, 1 case of SOS1 mutation and 5 cases after rh GH treatment. The annual growth rate was 0 months (3.92 鹵1.23) cm/y;, respectively. 3 months (8.36 鹵2.57) cm/y; 6 months (8.30 鹵1.97) cm/y; 9 months (9.33 鹵4.46) cm/y; 12 months (8.80 鹵1.20) cm/y. Except for the 9th month, the growth rate was significantly increased at 6 and 12 months after treatment (P0.01). During the 1 year follow-up period, except for one patient entering 3-10th, the other 4 patients were still below 3thth in height. The growth rate of 10 TS patients matched with the age of NS was higher than that of NS patients before treatment and at the 3rd and 6th month after treatment. The growth rate of NS was higher than that of TS patients before treatment and at the 9th and 12th month after treatment. But there was no significant difference (P0.05). Among the 10 patients with TS, 1 case was between 3~10th and 9 cases were 3th.After one year of rh GH treatment, 3 cases were at 3thth, and 7 cases were 3thth. The growth rate of 10 GHD patients matched with the age / sex of NS was significantly higher than that of NS, at the 3rd and 6th month after treatment (P0.05). The growth rate of GHD was higher than that of NS, before and 9 months after treatment, but the growth rate of NS was higher than that of GHD, at 12 months after treatment (P0.05). Before treatment, 1 case was located at 1010 th and 8 cases were 3 ths.After one year of rh GH treatment, 3 cases were located in 3th to 3thth, and the remaining 7 cases remained unchanged in percentile. Adverse events: in 6 cases of TS and 10 cases of GHD, 2 cases, 4 cases and 2 cases of GHD showed subclinical hypothyroidism during follow-up period, and immediately corrected thyroid function with 25ug/d. There were no adverse reactions associated with rh GH during follow-up, such as injection site pain, rash, joint pain and elevated blood glucose. In this study, 6 patients with NS had different degrees of abnormal signs. The annual growth rate of both NS,TS and GHD patients was significantly higher than that of the previous patients, and there was no serious adverse reaction. The results showed that NS and TS had the same effect on rh GH, and there was no significant difference in each point of follow up, but compared with GHD patients with age / gender matching, the effect of GHD was more significant than that of GHD patients with rh GH.
【學位授予單位】：河北北方學院
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R596
本文編號：2388042
[Abstract]:Noonan syndrome (Noonan syndrome,NS) is an autosomal dominant hereditary disease characterized by short stature, special face and congenital heart disease. Previous studies have shown that recombinant human growth hormone (Recombinant human growth hormone,rh GH) can significantly improve lifetime height in NS patients. However, there are no reports on the clinical characteristics of NS patients and the response to rh GH therapy in China. This study summarized and analyzed the clinical features of 6 patients with NS and the therapeutic effect of rh GH. From May 2009 to August 2015, a series of physical examination, laboratory examination and gene screening were performed on 6 suspected NS patients in the Department of Endocrinology, Peking Union Hospital. Rh GH, was given at 0.10-0.15IU/kg*d dose and followed by regular follow-up. At the same time, 10 patients with Turner's syndrome (Turner Sydrome,TS) and 10 patients with complete growth hormone deficiency (Growth Hormone Deficiency) were compared with age / gender matched patients with rh GH. Six patients had typical facial appearance of NS and could be diagnosed as dwarfism, and 5 patients with congenital heart disease, 5 patients with congenital heart disease. There were 4 cases of abnormal development of bone system and different degrees of bone age backwardness. 6 patients were diagnosed as NS, by gene test, including 4 cases of PTPN11 mutation, 1 case of KRAS mutation, 1 case of SOS1 mutation and 5 cases after rh GH treatment. The annual growth rate was 0 months (3.92 鹵1.23) cm/y;, respectively. 3 months (8.36 鹵2.57) cm/y; 6 months (8.30 鹵1.97) cm/y; 9 months (9.33 鹵4.46) cm/y; 12 months (8.80 鹵1.20) cm/y. Except for the 9th month, the growth rate was significantly increased at 6 and 12 months after treatment (P0.01). During the 1 year follow-up period, except for one patient entering 3-10th, the other 4 patients were still below 3thth in height. The growth rate of 10 TS patients matched with the age of NS was higher than that of NS patients before treatment and at the 3rd and 6th month after treatment. The growth rate of NS was higher than that of TS patients before treatment and at the 9th and 12th month after treatment. But there was no significant difference (P0.05). Among the 10 patients with TS, 1 case was between 3~10th and 9 cases were 3th.After one year of rh GH treatment, 3 cases were at 3thth, and 7 cases were 3thth. The growth rate of 10 GHD patients matched with the age / sex of NS was significantly higher than that of NS, at the 3rd and 6th month after treatment (P0.05). The growth rate of GHD was higher than that of NS, before and 9 months after treatment, but the growth rate of NS was higher than that of GHD, at 12 months after treatment (P0.05). Before treatment, 1 case was located at 1010 th and 8 cases were 3 ths.After one year of rh GH treatment, 3 cases were located in 3th to 3thth, and the remaining 7 cases remained unchanged in percentile. Adverse events: in 6 cases of TS and 10 cases of GHD, 2 cases, 4 cases and 2 cases of GHD showed subclinical hypothyroidism during follow-up period, and immediately corrected thyroid function with 25ug/d. There were no adverse reactions associated with rh GH during follow-up, such as injection site pain, rash, joint pain and elevated blood glucose. In this study, 6 patients with NS had different degrees of abnormal signs. The annual growth rate of both NS,TS and GHD patients was significantly higher than that of the previous patients, and there was no serious adverse reaction. The results showed that NS and TS had the same effect on rh GH, and there was no significant difference in each point of follow up, but compared with GHD patients with age / gender matching, the effect of GHD was more significant than that of GHD patients with rh GH.
【學位授予單位】：河北北方學院
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R596
【參考文獻】
相關(guān)碩士學位論文 前1條
1 于萍;68例矮小癥患者的基因變異檢測和病因研究[D];北京協(xié)和醫(yī)學院;2015年
，本文編號：2388042
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