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Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.

作者信息

VanNoy Grace E, Wojcik Monica H, Genetti Casie A, Mullen Thomas E, Agrawal Pankaj B, Stein Deborah R

机构信息

Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.

出版信息

Kidney Int Rep. 2020 May 23;5(8):1316-1319. doi: 10.1016/j.ekir.2020.05.008. eCollection 2020 Aug.

DOI:10.1016/j.ekir.2020.05.008
PMID:32775833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7403496/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9c9/7403496/d7832e0f5f13/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9c9/7403496/d7832e0f5f13/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9c9/7403496/d7832e0f5f13/gr1.jpg

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Neonatal polycystic kidney disease: a novel variant.新生儿多囊肾病：一种新的变异型。
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Polyvisceral polycystic disease: a case study and review.多脏器多囊性疾病：病例研究与综述。

本文引用的文献

1
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.扩展130例常染色体隐性多囊肾病先证者的突变谱：通过桑格测序和多重连接探针扩增技术分析鉴定62个新的PKHD1突变
J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26.
2
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.PKD1 异常的双线性遗传，模拟常染色体隐性多囊肾病。
Pediatr Nephrol. 2013 Nov;28(11):2217-20. doi: 10.1007/s00467-013-2484-x. Epub 2013 Apr 28.
3
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
CEN Case Rep. 2021 Aug;10(3):448-452. doi: 10.1007/s13730-021-00582-1. Epub 2021 Mar 4.
多囊蛋白-1 的功能剂量决定常染色体显性遗传多囊肾病的严重程度。
J Clin Invest. 2012 Nov;122(11):4257-73. doi: 10.1172/JCI64313. Epub 2012 Oct 15.
4
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.多种 PKD 基因的突变可能解释了多囊肾病的早期和严重病变。
J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27.
5
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.不完全显性的PKD1等位基因表明基因剂量在多囊肾病囊肿起始中起作用。
Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21.
6
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.降低Pkd1的表达足以引发多囊肾病。
Hum Mol Genet. 2004 Dec 15;13(24):3069-77. doi: 10.1093/hmg/ddh336. Epub 2004 Oct 20.
7
Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.个体肾囊肿和肝囊肿中的体细胞PKD2突变支持2型常染色体显性多囊肾病囊肿形成的“双打击”模型。
J Am Soc Nephrol. 1999 Jul;10(7):1524-9. doi: 10.1681/ASN.V1071524.
8
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.靶向Pkd1突变小鼠出现围产期致死并伴有肾脏和胰腺缺陷。
Nat Genet. 1997 Oct;17(2):179-81. doi: 10.1038/ng1097-179.
9
Multilocus polycystic disease.多位点多囊病
Nat Genet. 1992 Jul;1(4):235-7. doi: 10.1038/ng0792-235.