Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous or Variant?
作者信息
Savige Judy
机构信息
Department of Medicine (Melbourne Health) and Northern Health, The University of Melbourne, Parkville, Victoria, Australia.
出版信息
Kidney Int Rep. 2018 Aug 22;3(6):1239-1241. doi: 10.1016/j.ekir.2018.08.002. eCollection 2018 Nov.
Abstract
摘要
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Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous or Variant?当存在致病性杂合子或变异时，我们是否应诊断常染色体显性遗传性阿尔波特综合征？
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本文引用的文献
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Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.IV型胶原肾病的常染色体显性遗传形式存在于临床病理诊断困难的遗传性肾炎患者中。
Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.
2
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.常染色体显性遗传家族性镜下血尿伴局灶节段性肾小球硬化所致晚发型 Alport 肾病中 COL4 基因突变频繁发生。
Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.
3
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.NEPH3基因中的一个功能性变异赋予原发性血尿性肾小球病患者肾衰竭的高风险。一般人群中微量白蛋白尿易感性的证据。
PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017.
4
Identification of a novel collagen type IV alpha-4 () mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.利用外显子组测序在中国一个常染色体显性遗传阿尔波特综合征家系中鉴定一种新型IV型胶原α-4（）突变
Indian J Med Res. 2016 Aug;144(2):200-205. doi: 10.4103/0971-5916.195026.
5
Alport syndrome: impact of digenic inheritance in patients management.奥尔波特综合征：双基因遗传在患者管理中的影响
Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22.
6
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population.欧洲人群中常染色体显性遗传性阿尔波特综合征真实临床进展的研究。
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7
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.常染色体隐性遗传性奥尔波特综合征携带者合并薄基底膜肾病，在晚年表现为局灶节段性肾小球硬化。
Nephron. 2015;130(4):271-80. doi: 10.1159/000435789. Epub 2015 Jul 17.
8
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.欧洲人群的COL4A4基因研究：导致常染色体显性遗传性阿尔波特综合征的新突变描述
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Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.COL4A5和MYO1E突变的共同遗传会加重肾脏疾病的严重程度。
Pediatr Nephrol. 2015 Sep;30(9):1459-65. doi: 10.1007/s00467-015-3067-9. Epub 2015 Mar 5.
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COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.COL4A3/COL4A4 基因突变及常染色体隐性遗传型 Alport 综合征的特征。
J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.
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