发育医学电子杂志 2015, Vol. 3 Issue (3): 170-171 |
临床遗传
病例报告
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NPHS2基因突变导致激素耐药型肾病综合征1例 |
彭洪军 夏正坤 |
彭洪军 夏正坤(南京军区南京总医院 儿科, 江苏南京 210002) |
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Mutation of NPHS2 induced steroid-resistant nephritic syn-drome(SRNS):a case report |
PENG Hong-jun,XIA Zheng-kun |
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摘要
患儿男,2011 年5 月23 日出生,2013 年5 月10 日因感冒后出现周身水肿,就诊本院儿科,诊断为肾病综合征(nephrotic syndrome,NS)收入院,予以足量泼尼松25 mg/d 口服,尿蛋白始终未转阴;同年6 月10 日起连续3 天给予甲泼尼龙200
mg/d 冲击治疗,病情未见缓解。确诊为激素耐药型肾病综合征(steroid resistant nephrotic syndrome,SRNS)。6 月17 日加用钙调神经蛋白酶抑制剂- 他克莫司1 mg/d口服,尿蛋白较前减少,但始终未转阴;10 月26 日再次予以甲泼尼龙冲击治疗3 天,尿蛋白始终(++)。2014 年2 月7 日患儿再次出现双眼水肿,入院后予激素、他克莫司及环磷酰胺冲击治疗,尿蛋白减少出院,口服泼尼松片15 mg 隔日口服。后每月行环磷酰胺冲击1 次,共累计5 次,累积剂量为1.5 g,激素减至10 mg 隔日口服,尿蛋白始终未缓解和转阴,偶有增加;2014 年6 月29 日加用雷公藤30 mg/d,泼尼松片15 mg/d,停用他克莫司,尿蛋白仍持续阳,同年7 月29 日患儿无明显诱因出现发热,热峰39.6℃,血培养提示肺炎链球菌感染,给予哌拉西林他唑巴坦抗感染,免疫球蛋白支持治疗,8 月9 日给予第6 次环磷酰胺0.3 g 冲击,8 月13 日起给予足量泼尼松6 片/d 口服,尿蛋白好转,但始终未转阴;8月28 日水肿加重,予泼尼松30 mg 隔日口服,联合托拉塞米利尿消肿;9 月2 日加用他克莫司1 mg 早餐前、0.5 mg 晚餐前口服,并联合免疫抑制;9 月16 日起予甲泼尼龙200 mg 冲击治疗,3 天后水肿消退,尿蛋白略有缓解;12 月27 日因水肿和大量蛋白尿再次收入本院,泼尼松加至30 mg/d,并予以长春新碱0.8 mg/ 周,共4 周,尿蛋白未缓解。
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关键词:
肾病综合征 ')" href="#">肾病综合征
')" href="#"> 基因突变
')" href="#"> 儿童
耐药型 ')" href="#"> 激素耐药型
尿蛋白
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收稿日期: 2015-03-11
出版日期: 2015-09-30
发布日期: 2018-05-15
期的出版日期: 2015-09-30
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通讯作者:
夏正坤https://baike.baidu.com/item/%E5%A4%8F%E6%AD%A3%E5%9D%A4/6225384?fr=aladdin
E-mail: njxzk@126.com
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引用本文: |
彭洪军 夏正坤. NPHS2基因突变导致激素耐药型肾病综合征1例[J]. 发育医学电子杂志, 2015, 3(3): 170-171.
PENG Hong-jun, XIA Zheng-kun. Mutation of NPHS2 induced steroid-resistant nephritic syn-drome(SRNS):a case report. Journal of Developmental Medicine(Electronic Version), 2015, 3(3): 170-171.
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链接本文: |
http://www.fyyxzz.com/CN/
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http://www.fyyxzz.com/CN/Y2015/V3/I3/170 |
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