{"nowTime30":1711700459166,"lyBarModerator":null,"metaSearch":{"description":"目前遗传门诊可提供的疾病诊断主要如下:\n•染色体病 •苯丙酮尿症 (PKU) •X连锁进行性肌营养不良(DMD) •脊髓性肌萎缩(SMA) •肝豆状核变性 (WD) •血友病A •性别鉴定 •性反转分析 •Pr","keywords":"协和医院遗传代谢就诊指南_洞医","title":"协和医院遗传代谢就诊指南_洞医","channels":null},"identificate":{"id":"0300b4bddfaf11e6a61c00163e04584d","isDel":0,"createAt":1484985344390,"createBy":"b1a5ca4ddfad11e6a61c00163e04584d","createName":"小海螺","updateAt":0,"updateBy":null,"updateName":null,"userId":"b1a5ca4ddfad11e6a61c00163e04584d","realName":"赵玉","certifiedStatus":2,"phone":"111111111111","email":"2276635444@qq.com","hospitalId":"31c19c1b453011e69d4700163e005165","departmentId":"2000","illName":"","illId":"793a72a2bb5f11e6a61c00163e04584d","cardType":1,"cardImg":"http://01luntan.com/ly_img/1484985951761.jpg","idCardImg":"","identityType":2,"stop":0,"departmentName":"儿科","hospitalName":null},"canEdit":null,"adList":[],"lyBar":{"id":"1708","isDel":0,"createAt":1483439344750,"createBy":"system","createName":"system","updateAt":0,"updateBy":null,"updateName":null,"userId":null,"name":"北京协和医院儿科","type":101,"twoCode":"http://zhao01.com/zly_img/zly_wx.jpg","image":null,"provinceId":"110000","cityId":"110101","illId":null,"hospitalId":"15009","keyWord":null,"totleTopic":0,"barDesc":null,"discussBarType":null,"metaSearch":"{\"description\":\"洞医为您提供:协和医院儿科急诊、协和医院儿科电话、病友的治疗经验等相关信息,让您在便捷的求医路上不花一分冤枉钱。\",\"keywords\":\"协和医院儿科急诊_协和医院儿科电话_洞医\",\"title\":\"协和医院儿科急诊_协和医院儿科电话_洞医\"}","adInfo":null},"isLikeThisTopic":null,"lastTopics":[{"id":"4575","isDel":0,"createAt":0,"createBy":null,"createName":null,"updateAt":0,"updateBy":null,"updateName":null,"userId":null,"title":"新生儿黄疸的临床表现 预防黄疸有这些方法","content":"
对于家长来说,其在平时对于新生儿身上所出现的黄疸病症是要多加注意的,而通过其在患儿身上的症状表现,还可以判断出病情所处的阶段,那么,新生儿黄疸的临床表现有哪些?
\n新生儿黄疸的临床表现
\n1、生理性黄疸
\n轻者呈浅黄色局限于面颈部,或波及躯干,巩膜亦可黄染2~3日后消退,至第5~6日皮色恢复正常;重者黄疸同样先头后足可遍及全身,呕吐物及脑脊液等也能黄染时间长达1周以上,特别是个别早产儿可持续至4周,其粪仍系黄色,尿中无胆红素。
\n2、黄疸色泽
\n轻者呈浅花色,重者颜色较深,但皮肤红润黄里透红。
\n3、黄疸部位
\n多见于躯干、巩膜及四肢近端一般不过肘膝。
\n4、新生儿
\n一般情况好,无贫血,肝脾不肿大肝功能正常,不发生核黄疸。
\n5、早产儿
\n生理性黄疸较足月儿多见,可略延迟1~2天出现,黄疸程度较重消退也较迟,可延至2~4周。
\n新生儿黄疸预防
\n准妈妈如果曾经生过有胎黄的婴儿,再妊娠时应作预防,按时服用中药。
\n准妈妈如果有肝炎史或曾生病理性黄疸婴儿者,产前宜测定血中抗体及其动态变化,并采取相应预防性服药措施。在分娩时应加强监护,产后也应对婴儿进行严密的监护,一旦出现症状及时治疗。
\n夫妻双方如血型不合(尤其母亲血型为O,父亲血型为A、B或AB),或者母亲RH血型呈阴性,应定期做有关血清学和羊水检查,并在严密监护下分娩,以防止新生儿溶血症的发生。
\n婴儿出生后就应密切观察其巩膜黄疸情况,及时了解黄疸的出现时间及消退时间,发现黄疸应尽早治疗,并观察黄疸色泽变化以了解黄疸的进退。
\n新生儿注意保暖,早起开奶。
\n胎黄常因孕母遭受湿热侵袭而累及胎儿,致使胎儿出生后出现胎黄,故妊娠期间,孕母应注意饮食有节,不过食生冷,不过饥过饱,并忌酒和辛热之品,以防损伤脾胃。
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新生儿黄疸怎么护理?大多数新生宝宝都会出现黄疸,对于黄疸现象,家长们可以不用太担心,因为这是新生儿的正常生理现象。但是新生儿黄疸也有病理性现象,面对这种情况,家长该如何护理新生儿呢?
\n一、新生儿黄疸分类:新生儿黄疸分为生理性黄疸和病理性黄疸
\n生理性黄疸是指由于新生儿胆红素产生过多、肝脏功能不成熟导致胆红素浓度增高而出现的黄疸。足月儿的生理性黄疸是在第2~3天出现,4~5天达到高峰,7~10天消失,黄疸轻重不一,轻者仅限于面颈部,重者可延至躯干四肢,以及巩膜。早产儿的生理性黄疸出现比较早、程度较重,消退较慢,可延至2~4周。
\n病理性黄疸的原因有:溶血、重症感染、胆道闭锁以及代谢性疾病等。
\n另外一种特殊类型黄疸称为母乳性黄疸,通常发生于纯母乳喂养或以母乳喂养为主的少数新生儿,黄疸于出生后1周后出现,2周左右达高峰,然后逐渐下降。若继续母乳喂养,黄疸可延续4~12周方消退;若停母乳喂养,黄疸在48~72小时明显消退。
\n新生儿黄疸正常值:
\n足月儿黄疸正常值:胆红素低于12.9mg/dL。
\n早产儿黄疸正常值:胆红素低于15mg/dL。
\n小Tips:就是代表100毫升的血液中的胆红素水平低于12.9毫克伟正常。
\n二、新生儿黄疸应对有诀窍
\n1、早开奶:最好在宝宝出生30分钟内开奶。
\n原因:因为初乳有轻微通便作用,能利于胎便排出,减少宝宝体内的胆红素含量,减少新生儿黄疸。
\n2、多观察,勤测量:在自然光线下,观察宝宝皮肤黄染的程度。
\n轻度黄疸:只是面部黄染,可在家观察。
\n中度黄疸:躯干部皮肤黄染。
\n重度黄疸:四肢和手足心也出现黄染,这时需要到医院化验检查。
\n3、不需要抽血验黄疸。
\n如果医生感觉宝宝黄疸不重,通常可以用经皮测胆仪,仪器碰一下皮肤就可以。
\n如果黄疸很严重的时候,才需要及时抽血化验。
\n4、吃喝要注意。
\n*喂点葡萄糖水:给新生儿充足的水分,小便过少不利于胆红素的排泄。
\n*喂点乳酸菌制剂:借助这些药物,可以尽早使胎便尽早排出。
\n*喂点中药:利用中药起到清热解毒,利湿退黄的作用。
\n5、拉撒要观察。
\n观察尿尿:如果发现尿布被尿液染成特别的黄的颜色,呀抓紧时间去医院。
\n观察便便:便便成陶土色,应考虑病理性黄疸,这大多由于先天性胆道畸形所导致的。/6、6、护理要积极:
\n*多做抚触,可以促进血液循环,使黄疸消退。
\n*去专业婴儿游泳池游泳,运动能有消退黄疸、缩短黄疸持续时间的作用。
\n6、黄疸延长不用怕。
\n黄疸消退从躯干开始消退,最后才到面部消退,很多爸妈只注意宝宝露出的面部,黄疸不消退,心里就很紧张,其实只要身体上基本消退了,问题不大。
\n温馨提示:
\n生理性黄疸:可根据以上7个诀窍来进行护理,(ps:2-3天之内出现,7-10天自然消退。)
\n病理性黄疸:需要及时到医院进行治疗。(Ps:24小时之内出现,或者5天之后才出现,持续时间在2周以上,并且发复发作。)
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检查及化验:
1.小孩子在2016年8月初住院做肝穿,诊断为乙肝G2S2;
2.最近一次随访检查(2017年2月6日)ALT 75,AST 61, ALP 246,因小孩最近细菌感染肚子疼挂水,医生认为此次检查该指标可能会有偏差
治疗情况(当前用药或近期手术):
复方甘草酸甘片(美能),每天两次 25mg 口服
病史:
1.小孩子在2016年7月份入托检查中查出肝功能异常;
2.2016年7月19日到我市第三人民医院检查,检查结果ALT 108,AST 105,HBVDNA 1.03*10的六次方,建议我们到上海医院就诊;
3.2016年7月26日,到上海复旦大学附属儿科医院就诊,初步诊断病毒性肝炎(乙型),建议住院肝穿;
4.住院肝穿,结果G2S2,医生开复方甘草酸甘片(美能),每天两次 25mg 口服并要求随访;
5.2016年9月3日,检查ALT 56,AST 57;2016年11月5日,检查ALT 42,AST 48
2017年2月6日,检查ALT 75,AST 61
上海的医生建议我们3月份在做一次检查,如果肝功还是异常,基于我们肝穿结果和持续6个月肝功异常,需要治疗,建议用长效干扰素治疗,如果有禁忌症,则用口服恩替卡韦。
我们之前在常州市三院给医生做检查时,医生建议我们口服拉米夫定,不推荐干扰素治疗。小孩子母亲为乙肝大三阳,肝功能正常,小孩子是顺产,在出生时打了一针加强型免疫球蛋白
作为父母,我们很纠结,不知道该怎么办,向我孩子这样需不需要治疗,如果真的需要治疗,建议用哪个方案比较好。
","barId":"1708","topicTypeId":null,"topicThemeId":"1020","readLevel":0,"files":"","clickNoLikeCount":0,"clickLikeCount":0,"clickCount":0,"score":0,"partCount":0,"replayCount":0,"publishStatus":0,"publishTime":0,"isCream":null,"canReply":0,"shareUrl":null,"foodCouponVal":0,"emailNotice":0,"permission":0,"zlyShare":0,"status":0,"sort":0,"highlight":0,"highlightEffectTime":0,"digest":0,"digestEffectTime":0,"top":0,"topEffectTime":0,"closed":0,"stamp":0,"icon":0,"bgcolor":null,"fontcolor":null,"favtimes":0,"isAdopt":0,"adoptId":null,"sortDate":0,"metaSearch":null,"rn":1},{"id":"2648","isDel":0,"createAt":0,"createBy":null,"createName":null,"updateAt":0,"updateBy":null,"updateName":null,"userId":null,"title":"感冒发烧引起咳嗽","content":"女,2岁7个月。轻微感冒 发烧两天 拉肚子一天 现在其他症状没有 就是干咳
可以吃易坦静吗?还需要什么药
","barId":"1708","topicTypeId":null,"topicThemeId":"1019","readLevel":0,"files":"","clickNoLikeCount":0,"clickLikeCount":0,"clickCount":0,"score":0,"partCount":0,"replayCount":0,"publishStatus":0,"publishTime":0,"isCream":null,"canReply":0,"shareUrl":null,"foodCouponVal":0,"emailNotice":0,"permission":0,"zlyShare":0,"status":0,"sort":0,"highlight":0,"highlightEffectTime":0,"digest":0,"digestEffectTime":0,"top":0,"topEffectTime":0,"closed":0,"stamp":0,"icon":0,"bgcolor":null,"fontcolor":null,"favtimes":0,"isAdopt":0,"adoptId":null,"sortDate":0,"metaSearch":null,"rn":3},{"id":"5237","isDel":0,"createAt":0,"createBy":null,"createName":null,"updateAt":0,"updateBy":null,"updateName":null,"userId":null,"title":"儿童系统性红斑狼疮临床症状","content":"儿童系统性红斑狼疮(SLE)是一种侵犯多个系统、多个脏器的自身免疫性疾病。遗传素质、环境因素、性激素和免疫异常与本病的发生有关。该病非传染病,不需要隔离。
\n儿童系统性红斑狼疮有哪些临床表现呢?
\n1. 全身症状:大多数患儿有发热,还会有食欲不振、乏力等。
\n2. 皮疹:典型的有蝶形红斑、盘状红斑、甲周红斑,可有全身多型性红斑,有脱发。
\n3. 粘膜:口鼻的溃疡、糜烂。
\n4. 关节、肌肉:大小关节的肿痛,肌痛,肌无力。
\n5. 肾脏:高达2/3的SLE儿童在就诊时已有肾脏受累,且程度较重。从蛋白尿、镜下血尿、管型尿至肾功能衰竭都可出现。
\n6. 心血管:常见雷诺现象,心肌炎、心包炎、心律失常等。
\n7. 呼吸系统:常见渗出性胸膜炎,也可有肺实质侵润性病变、肺不张、肺间质纤维化、肺动脉高压等。
\n8. 消化系统:可腹痛、腹泻、出血、穿孔、梗阻。少数腹膜炎、腹水。
\n9. 神经/精神系统:虽头痛、呕吐、昏迷、惊厥及精神病等严重的神经精神症状均可见到,但常常仅有慢性抑郁、判断力下降、近事遗忘等细微变化,导致学习成绩下降。
\n10. 血液系统:常见血中红细胞、白细胞、血小板减少,溶血性贫血,全身表浅淋巴结肿大,轻-中度肝脾大。有些儿童SLE病初仅表现为血小板减少。
\n","barId":"1708","topicTypeId":null,"topicThemeId":"1016","readLevel":0,"files":"[]","clickNoLikeCount":0,"clickLikeCount":0,"clickCount":0,"score":0,"partCount":0,"replayCount":0,"publishStatus":0,"publishTime":0,"isCream":null,"canReply":0,"shareUrl":null,"foodCouponVal":0,"emailNotice":0,"permission":0,"zlyShare":0,"status":0,"sort":0,"highlight":0,"highlightEffectTime":0,"digest":0,"digestEffectTime":0,"top":0,"topEffectTime":0,"closed":0,"stamp":0,"icon":0,"bgcolor":null,"fontcolor":null,"favtimes":0,"isAdopt":0,"adoptId":null,"sortDate":0,"metaSearch":null,"rn":6},{"id":"1977","isDel":0,"createAt":0,"createBy":null,"createName":null,"updateAt":0,"updateBy":null,"updateName":null,"userId":null,"title":"如何处理预防接种反应","content":"
接种疫苗后发生的异常反应要及时报告所在地段或乡卫生院保健科和区、县卫生防疫站,并及时、妥善处理,处理方法如下。
1. 一般反应:一般的局部反应和全身反应不需任何处理,经适当休息就可恢复。局部反应较重时,可用清洁毛巾热敷,每天数次,每次10~15分钟。全身反应可对症治疗,发烧、头痛时服一些解热镇痛药,卧床休息、多喝开水、防止合并症及继发感染。
2. 局部化脓:首先要区别是感染性化脓还是无菌性化脓。感染性化脓以抗感染为主,必要时切开引流;而无菌性化脓不应切开,切开后伤口可能长期不愈合。较轻的无菌性化脓经过热敷后可自行吸收,较重的可用无菌注射器抽脓,如脓肿破溃或有空腔,就需要切开排脓,必要时扩创,剔除坏死组织,用抗生素预防继发感染。
3. 晕针:应立即平卧,头部放低些,注意保暖,喝些温开水或糖水,针刺人中、合谷、少商等穴位,一般短时即可恢复;严重的可皮下注射1:1000肾上腺素。
4. 急性精神性反应如癔病性发作等可用针灸、暗示疗法,严重的给些镇静剂。
5. 变态反应:如过敏性皮疹、血管神经性水肿可服抗过敏药物如扑尔敏等。血管神经性水肿除服抗过敏药物外,可用湿毛巾热敷。过敏性紫癜为出血性皮疹,除应用抗过敏药物外,适当用止血药物,必要时使用激素。对于过敏性休克要使病人平卧,立即注射1:1000肾上腺素,密切注意观察病情,血压下降应给升压药,呼吸困难应吸入氧气,总之要注意及时处理,及时治疗抢救。
预防接种反应主要应由医务人员处理,但家长了解有关知识有利于在现场与医务人员配合。
协和医院儿科能诊断和治疗各类小儿常见的血液系统疾病,包括:急性淋巴细胞性白血病、急性粒细胞性白血病、霍奇金病、非霍奇金淋巴瘤、朗格汉斯细胞组织细胞增生症、营养性贫血、再生障碍性贫血、溶血性贫血、骨髓增生异常综合症、脾功能亢进、白细胞减少症等,尤其擅长小儿出、凝血疾病,如:难治性儿童特发性血小板减少性紫癜、先天性及获得性血友病、弥漫性血管内出血、易栓症等的诊断和治疗。
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目前遗传门诊可提供的疾病诊断主要如下:
\n• 染色体病
• 苯丙酮尿症 (PKU)
• X连锁进行性肌营养不良(DMD)
• 脊髓性肌萎缩(SMA)
• 肝豆状核变性 (WD)
• 血友病A
• 性别鉴定
• 性反转分析
• Prader-Willi 综合症
• 脆X综合症
• 亨廷顿病(HD)
• 21三体(Down综合症)快速检测
• Fabry 病
• 糖原累积症Ia型,Ib型,II型(Pompe病)和III型
• 岩藻糖苷储积症
• 甘露糖苷储积症
• GM1神经节苷脂储积症
• GM2神经节苷脂储积症 (Tay-Sachs)
• GM2神经节苷脂储积症 (Sandholl)
• 高雪氏病 (Gaucher)
• 异染性脑白质营养不良 (MLD)
• 球形脑白质营养不良 (Krabbe)
• 尼曼匹克病 (Niemann-Pick)
• 各型粘多糖储积症(MPS)
• 粘脂储积症 (ML)II和III型
遗传门诊还能针对患者的特殊需要提供专门的基因诊断服务。曾经做过的基因诊断包括软骨发育不良、进行性假性类风湿病性软骨发育不良、干骺端发育不良(Jansen型)、颅锁骨发育不良、Costello综合症、Blau综合症、先天性大唾液腺缺失、丙酮酸脱氢酶缺乏症(PDH)、湿疹血小板减少紫癜综合症(WAS)、Sotos综合症、Williams综合症、火棉胶样儿、遗传性对称性色素异常症等。
\n 时间 \n | \n\n 地点 \n | \n\n 出诊人员 \n | \n
\n 星期二上午 \n | \n\n 协和东院儿科门诊 \n | \n\n 施惠萍,邱正庆,孟岩,仇佳晶 \n | \n
\n 星期二下午 \n | \n\n 协和东院北配楼特需门诊 \n | \n\n 赵时敏,施惠萍 \n | \n
\n 星期五上午 \n | \n\n 协和东院儿科门诊 \n | \n\n 施惠萍,邱正庆,孟岩,仇佳晶 \n | \n
\n
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