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[1]王欣,张碧丽.误诊为薄基底膜肾病的Alport综合征1例[J].天津医科大学学报,2022,28(06):675-678.
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误诊为薄基底膜肾病的Alport综合征1例(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
28卷
期数:
2022年06期
页码:
675-678
栏目:
病例报告
出版日期:
2022-11-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2022)06-0675-04
作者:
王欣张碧丽
天津市儿童医院特需病房,天津 300134
Author(s):
-
关键词:
Alport综合征COL4A5基因儿童
Keywords:
-
分类号:
R692.1
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] WARADY B A,AGARWAL R,BANGALORE S,et al. Alport syndrome classification and management[J]. Kidney Med,2020,2(5):639-649.
[2] 袁昶,黄文彦.Alport综合征的诊断和治疗进展[J].罕少疾病杂志,2022,29(1):1 -3,9.
[3] ALPORT A C. Hereditary familial congenital haemorrhagic nephritis[J]. Br Med J,1927,1 (345 4):504-506.
[4] SPEAR G S,SLUSSER R J. Alport′s syndrome. Emphasizing electron microscopic studies of the glomerulus[J]. Am J Pathol,1972, 69(2):213-224.
[5] HEIDET L,GUBLER M C. The renal lesions of Alport sundrome[J]. J Am Soc Nephrol,2009,20(6):1210-1215.
[6] 丁洁,张琰琴.Alport 综合征精准诊治进展[J].中华肾病研究电子杂志,2016,5(2): 53-55.
[7] 丁洁.Alport综合征的诊断[J]. 肾脏病与透析肾移植杂志,2010, 19(4):344-345.
[8] MOCHIZUKI T,LEMMINK H H,MARIYAMA M,et al. Identification of mutations in the alpa 3(Ⅳ) and alpa 4(Ⅳ) collagen genes in autosomal recessive Alport syndrome[J]. Nat Genet,1994,8 (1): 77-81.
[9] BARKER D F,HOSTIKKA S L,ZHOU J,et al.Identification of mutations in the COL4A5 collagen gene in Alport syndorme[J]. Science,1990,248(4960):1224-1227.
[10] ZHANG Y,WANG F,DING J,et al. Genotype-phenotype correlations in 17 Chinese patient-s with autosomal recessive Alport syndrome[J]. Am J Med Genet A,2012,158A(9):2188-2193.
[11] Alport综合征诊疗共识专家组. Alport综合征诊断和治疗专家推荐意见[J].中华肾脏病杂志,2018,34(3):227-231.
[12] KASHTAN C E,DING J,GREGORY M,et al. Clinical practice recommendations for the treatment of Alport syndrome research collaborative [J]. Pediatr Nephrol,2013,28(1):5-11.
[13] PELEG Y,BOMBACK A S,RADHAKRISHNAN J. The evolving role of calcineurin inhibitors in treating lupus nephritis[J]. Clin J Am Soc Nephrol,2020,15(7):1066-1072.
[14] YILMAZ V T,DINCKAN A,YILMAZ F,et al. Outcomes of renal transplantation in patients with Alport syndrome[J]. Transplant Proc,2015,47(5):1377-1381.
[15] 甘卫华,张爱青,丁桂霞,等. IgA肾病治疗的循证医学证据[J].中国当代儿科杂志,2007,9(2):101-103.
[16] 章友康,陈育青. 薄基底膜肾病的诊断与治疗[J].中国中西医结合肾病杂志,2002,3(11):623-624.

相似文献/References:

[1]彭武建,陈文标.Alport综合征患者尿肾状杆细胞诱导成多能干细胞系的建立[J].天津医科大学学报,2017,23(02):128.
 PENG Wu-jian,CHEN Wen-biao.Establishment of pluripotent stem cells line induced by? renal tubular cells?in patient with Alport syndrome[J].Journal of Tianjin Medical University,2017,23(06):128.

备注/Memo

备注/Memo:
作者简介 王欣(1981-),女,主治医师,学士,研究方向:内分泌及罕见病;
通信作者:张碧丽,E-mail:zhangbili218@163..com。
更新日期/Last Update: 2022-11-20