初诊为原发性肾炎型肾病综合征患儿的病因构成分析——对国内儿童原发性肾病综合征临床分型的商榷
|
摘要
目的总结初诊为原发性肾炎型肾病综合征患儿的病因构成情况,探讨国内儿童原发性肾病综合征临床分型的价值。方法纳入2013年1月1日至2017年12月31日北京大学第一医院儿科收治的病初临床诊断为原发性肾炎型肾病综合征患儿,且经肾脏病理检查或基因突变分析明确最终诊断者,排除继发性、遗传性肾病综合征及伴有明显肉眼血尿者。原发性肾病综合征的临床分型参照中华医学会儿科学分会肾脏病学组标准。截取患儿入院时一般情况、入院时诊断和临床分型、肾脏穿刺活检病理检查结果、基因检测结果和最终诊断。结果 28例临床分型为原发性肾炎型肾病综合征的患儿进入本文分析,占同期收治的原发性肾病综合征的10.6%(28/265)。分型依据:25例(89.3%)为镜下血尿,2例为高血压(7.2%),1例为肾功能异常(3.6%)。28例均进行了肾穿刺活检,11例行基因检测,最终诊断:原发性肾炎型肾病综合征5例(17.9%),Ig A肾病10例(35.7%),Alport综合征8例(28.6%),遗传性肾病综合征3例(10.7%),急性感染后肾小球肾炎和纤维素性肾小球肾炎各1例(3.6%)。结论儿童原发性肾炎型肾病综合征临床分型诊断的主要依据为镜下血尿,通过肾脏病理检查和基因检测明确病因,以Ig A肾病、遗传性肾脏疾病等居多,因此,临床诊断儿童原发性肾炎型肾病综合征应该慎重。
Objective To analyze the etiology of primary nephrotic syndrome( nephritic type) in children and to explore the value of Chinese clinical classification method for primary nephrotic syndrome in children.Methods The children with first onset nephrotic syndrome( nephritic type),hospitalized in Peking University First Hospital from Jan 1,2013 to Dec 31,2016 were studied retrospectively,to summarize their clinical classification and final diagnosis. All cases were diagnosed clearly by renal biopsy or gene mutation analysis. Secondary and hereditary nephrotic syndrome were excluded,and those who presented with gross hematuria were also excluded. The classification of primary nephrotic syndrome( nephritic type) was according to the criterion of Kidney Pathology Group of Chinese Medical Science Branch. The clinical data were included such as general information,admitting diagnosis,clinical classification,renal pathology,gene mutation analysis and final diagnosis. Results There were 265 cases of first onset nephrotic syndrome,including 237 cases( 89.4%) of simple type and 28 cases( 10.6%) of nephritic type. The classification basis of nephritic type were 25 cases( 89. 3%) of microscopic hematuria,2 cases( 7. 2%) of hypertension,1 case( 3.6%) of abnormal renal function. The final diagnosis was 5 cases( 7.9%) of nephrotic syndrome( nephritic type),10 cases( 35.7%) of Ig A nephropathy,8 cases( 28.6%) of Alport syndrome,3 cases( 10.7%) of hereditary nephrotic syndrome,1 case( 3.6%) of acute post-infectious glomerulonephritis and 1 case of fibrillary glomerulonephritis. Conclusion Microscopic hematuria is the main classification basis of the nephritic type of primary nephrotic syndrome in children. The main causes of primary nephrotic syndrome( nephritic type) are Ig A nephropathy and genetic renal diseases. The diagnosis of primary nephrotic syndrome( nephritic type)should be made cautiously.
Objective To analyze the etiology of primary nephrotic syndrome( nephritic type) in children and to explore the value of Chinese clinical classification method for primary nephrotic syndrome in children.Methods The children with first onset nephrotic syndrome( nephritic type),hospitalized in Peking University First Hospital from Jan 1,2013 to Dec 31,2016 were studied retrospectively,to summarize their clinical classification and final diagnosis. All cases were diagnosed clearly by renal biopsy or gene mutation analysis. Secondary and hereditary nephrotic syndrome were excluded,and those who presented with gross hematuria were also excluded. The classification of primary nephrotic syndrome( nephritic type) was according to the criterion of Kidney Pathology Group of Chinese Medical Science Branch. The clinical data were included such as general information,admitting diagnosis,clinical classification,renal pathology,gene mutation analysis and final diagnosis. Results There were 265 cases of first onset nephrotic syndrome,including 237 cases( 89.4%) of simple type and 28 cases( 10.6%) of nephritic type. The classification basis of nephritic type were 25 cases( 89. 3%) of microscopic hematuria,2 cases( 7. 2%) of hypertension,1 case( 3.6%) of abnormal renal function. The final diagnosis was 5 cases( 7.9%) of nephrotic syndrome( nephritic type),10 cases( 35.7%) of Ig A nephropathy,8 cases( 28.6%) of Alport syndrome,3 cases( 10.7%) of hereditary nephrotic syndrome,1 case( 3.6%) of acute post-infectious glomerulonephritis and 1 case of fibrillary glomerulonephritis. Conclusion Microscopic hematuria is the main classification basis of the nephritic type of primary nephrotic syndrome in children. The main causes of primary nephrotic syndrome( nephritic type) are Ig A nephropathy and genetic renal diseases. The diagnosis of primary nephrotic syndrome( nephritic type)should be made cautiously.
引文
[1]Hinkes BG,Mucha B,Vlangos CN,et al.Nephrotic syndrome in the first year of life:two thirds of cases are caused by mutations in 4 genes(NPHS1,NPHS2,WT1,and LAMB2).Pediatrics,2007,119(4):e907-919
[2]Inaba A,Hamasaki Y,Ishikura K,et al.Long-term outcome of idiopathic steroid-resistant nephrotic syndrome in children:response to comments.Pediatr Nephrol,2016,31(3):511-512
[3]Din9el N,Ylmaz E,Kaplan Buluti,et al.The long-term outlook to final outcome and steroid treatment results in children with idiopathic nephrotic syndrome.Ren Fail,2015,37(8):1267-1272
[4]中华医学会儿科学分会肾脏病学组.儿童激素敏感、复发/依赖肾病综综合征诊治循证指南(2016).中华儿科杂志,2017,55(10):729-734
[5]中华医学会儿科学分会肾脏病学组.儿童常见肾脏疾病诊治循证指南(一):激素敏感、复发/依赖肾病综合征诊治循证指南(试行).中华儿科杂志,2009,47(3):167-170
[6]Lombel RM,Gipson DS,Hodson EM,et al.Treatment of steroid-resistant nephrotic syndrome in children:new guidelines from KDIGO.Pediatr Nephrol,2013,28(3):409-414
[7]Kaku Y,Ohtsuka Y,Komatsu Y,et al.Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013:general therapy.Clin Exp Nephrol,2015,19(1):34-53
[8]中华医学会儿科学分会肾脏病学组.儿童常见肾脏疾病诊治循证指南(试行)(四):原发性Ig A肾病诊断治疗指南.中华儿科杂志,2010,48(5):355-357
[9]沈颖,樊剑锋.急性链球菌感染后肾小球肾炎.临床儿科杂志,2006,24(6):457-459
[10]Benoit G,Machuca E,Antignac C.Hereditary nephrotic syndrome:a systematic approach for genetic testing and a review of associated podocyte gene mutations.Pediatr Nephrol,2010,25(9):1621-1632
[11]Wang Y,Sivakumar V,Mohammad M,et al.Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Pediatr Nephrol,2014,29(3):391-396
[12]Yumura W.Fibrillary glomerulonephritis.Clin Exp Nephrol,2005,9(3):260-261
[13]姜梦婕,肖子正,蒋小云,等.单中心28年儿童原发性肾病综合征临床与病理分析.中华实用儿科临床杂志,2013,28(17):1310-1314
[14]管娜,丁洁,杨霁云,等.基于病例对照研究的儿童肾病综合征低白蛋白血症诊断标准探讨.中国循证儿科杂志,2017,12(2):131-134
[15]刘涛,张碧丽,王健.儿童原发性肾病综合征外周血TGF-β1及IL-18 mRNA检测的临床意义.临床儿科杂志,2015,33(6):520-524
[16]钟日荣,林瑜,陈慧.首诊为肾炎型肾病综合征儿童36例临床病理分析.福建医药杂志,2013,35(1):83-84,122
[17]任献国,刘光陵,夏正坤,等.儿童肾病综合征病理类型与年龄、性别的关系.临床儿科杂志,2011,29(8):743-745
[2]Inaba A,Hamasaki Y,Ishikura K,et al.Long-term outcome of idiopathic steroid-resistant nephrotic syndrome in children:response to comments.Pediatr Nephrol,2016,31(3):511-512
[3]Din9el N,Ylmaz E,Kaplan Buluti,et al.The long-term outlook to final outcome and steroid treatment results in children with idiopathic nephrotic syndrome.Ren Fail,2015,37(8):1267-1272
[4]中华医学会儿科学分会肾脏病学组.儿童激素敏感、复发/依赖肾病综综合征诊治循证指南(2016).中华儿科杂志,2017,55(10):729-734
[5]中华医学会儿科学分会肾脏病学组.儿童常见肾脏疾病诊治循证指南(一):激素敏感、复发/依赖肾病综合征诊治循证指南(试行).中华儿科杂志,2009,47(3):167-170
[6]Lombel RM,Gipson DS,Hodson EM,et al.Treatment of steroid-resistant nephrotic syndrome in children:new guidelines from KDIGO.Pediatr Nephrol,2013,28(3):409-414
[7]Kaku Y,Ohtsuka Y,Komatsu Y,et al.Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013:general therapy.Clin Exp Nephrol,2015,19(1):34-53
[8]中华医学会儿科学分会肾脏病学组.儿童常见肾脏疾病诊治循证指南(试行)(四):原发性Ig A肾病诊断治疗指南.中华儿科杂志,2010,48(5):355-357
[9]沈颖,樊剑锋.急性链球菌感染后肾小球肾炎.临床儿科杂志,2006,24(6):457-459
[10]Benoit G,Machuca E,Antignac C.Hereditary nephrotic syndrome:a systematic approach for genetic testing and a review of associated podocyte gene mutations.Pediatr Nephrol,2010,25(9):1621-1632
[11]Wang Y,Sivakumar V,Mohammad M,et al.Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Pediatr Nephrol,2014,29(3):391-396
[12]Yumura W.Fibrillary glomerulonephritis.Clin Exp Nephrol,2005,9(3):260-261
[13]姜梦婕,肖子正,蒋小云,等.单中心28年儿童原发性肾病综合征临床与病理分析.中华实用儿科临床杂志,2013,28(17):1310-1314
[14]管娜,丁洁,杨霁云,等.基于病例对照研究的儿童肾病综合征低白蛋白血症诊断标准探讨.中国循证儿科杂志,2017,12(2):131-134
[15]刘涛,张碧丽,王健.儿童原发性肾病综合征外周血TGF-β1及IL-18 mRNA检测的临床意义.临床儿科杂志,2015,33(6):520-524
[16]钟日荣,林瑜,陈慧.首诊为肾炎型肾病综合征儿童36例临床病理分析.福建医药杂志,2013,35(1):83-84,122
[17]任献国,刘光陵,夏正坤,等.儿童肾病综合征病理类型与年龄、性别的关系.临床儿科杂志,2011,29(8):743-745