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Role of Genetic Screening in the Management of Familial Focal Segmental Glomerulosclerosis: A Tale of Two Sisters.

作者信息

Siji Annes, Iyengar Arpana, Vasudevan Anil

机构信息

Division of Molecular Medicine, St. John's Research Institute, Bangalore, Karnataka, India.

Department of Pediatric Nephrology, St. John's Medical College Hospital, Bangalore, Karnataka, India.

出版信息

Indian J Nephrol. 2019 Jul-Aug;29(4):305-306. doi: 10.4103/ijn.IJN_123_18.

DOI:10.4103/ijn.IJN_123_18
PMID:31423072
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6668308/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a57/6668308/1278f52013c8/IJN-29-305-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a57/6668308/1278f52013c8/IJN-29-305-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a57/6668308/1278f52013c8/IJN-29-305-g001.jpg

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本文引用的文献

1
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.对全国肾病综合征队列进行基因组和临床分析,提倡采用精准医疗方法进行疾病管理。
Kidney Int. 2017 Apr;91(4):937-947. doi: 10.1016/j.kint.2016.10.013. Epub 2017 Jan 20.
2
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.散发性肾病综合征的异质性遗传改变与免疫抑制耐药性相关。
J Am Soc Nephrol. 2015 Jan;26(1):230-6. doi: 10.1681/ASN.2013111155. Epub 2014 Jul 24.
3
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
在散发性局灶节段性肾小球硬化症的异质患者队列中进行足细胞相关基因突变筛查。
Nephrol Dial Transplant. 2014 Nov;29(11):2062-9. doi: 10.1093/ndt/gft532. Epub 2014 Feb 4.
4
Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies.非免疫机制的钙调磷酸酶抑制剂解释了其在遗传性肾小球疾病中的抗蛋白尿作用。
Pediatr Nephrol. 2010 Jul;25(7):1197-9. doi: 10.1007/s00467-010-1469-2. Epub 2010 Mar 2.