PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease
PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease
复制标题
中国常染色体显性多囊肾患者PKD2基因变异
DOI：
10.1111/cge.14008
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发表时间：
2021-06
期刊：
影响因子：
--
通讯作者：
Changlin Mei
中科院分区：
文献类型：
--
作者：
Dechao Xu;Rongrong Bian;Suxin Tuo;Xuezhen Li;Jing Chen;Xiaohong Xing;Yunhui Lu;Lijun Sun;Xiaojing Tang;Shengqiang Yu;Zhiguo Mao;Yiyi Ma;Changlin Mei
在常染色体显性遗传性多囊肾病(ADPKD)患者中，PKD2基因变异占4.5%~20%。中国ADPKD患者中PKD2变异的临床特征知之甚少。在此，我们对44个中国人ADPKD家系的PKD2基因变异进行了全面的搜索，共鉴定出37个变异。在这37个变异体中，18个是无意义变异体，10个移码变异体，4个错义变异体，5个剪接位点变异体。首次检测到11/37个变异体。中位发病年龄30.5 岁，阳性家族史占77.27%，肝囊肿占68.18%，高血压占45.45%，肾结石占31.82%，大量血尿占22.73%，蛋白尿占13.63%。8/39例患者估计肾小球滤过率在60 /m in/1.73m~2以下。按Mayo临床分型，11/17例患者进展快。有9/22个家系报告了终末期肾病(ESRD)事件，在PKD2变异的家系中，肾结石和大量血尿的存在与ESRD显著相关。已鉴定的PKD2基因突变及其临床特征将有助于中国ADPKD患者的早期诊断和预后预测。
PKD2 gene variants account for 4.5% to 20% of patients with autosomal dominant polycystic kidney disease (ADPKD). Little is known about the clinical characteristics of PKD2 variants in Chinese patients with ADPKD. Herein, we performed a comprehensive search for variants of PKD2 gene in 44 Chinese ADPKD pedigrees and a total of 37 variants were identified. Of these 37 variants, 18 were nonsense variants, 10 frameshift variants, 4 missense variants, and 5 splice site variants. 11/37 variants were detected for the first time. The median age at diagnosis was 30.5 years, and positive family history was detected in 77.27% patients, liver cysts in 68.18%, hypertension in 45.45%, nephrolithiasis in 31.82%, macro‐hematuria in 22.73%, and proteinuria in 13.63%. The level of estimated glomerular filtration rate in 8/39 patients were blow 60 ml/min/1.73m2. 11/17 patients were classified as rapid progression by Mayo Clinic classification. The end stage renal disease (ESRD) events were reported in 9/22 pedigrees, and the presence of nephrolithiasis and macro‐hematuria were significantly associated with ESRD in the pedigrees with PKD2 variants. The identified variants and clinical features will facilitate the early diagnosis and prognosis prediction in Chinese ADPKD patients with PKD2 variants.
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影响因子：
56.9
作者：
Mochizuki, T;Wu, GQ;Somlo, S
通讯作者：
Somlo, S
DOI：
10.1016/b978-0-323-05876-6.00044-7
发表时间：
2003
期刊：
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
影响因子：
--
作者：
V. Torres;P. Harris
通讯作者：
V. Torres;P. Harris
DOI：
--
发表时间：
1998-10
期刊：
Journal of the American Society of Nephrology : JASN
影响因子：
--
作者：
Y. Pei;N. He;K. Wang;M. Kasenda;A. Paterson;G. Chan;Y. Liang;J. Roscoe;J. Brissenden;D. Hefferton;P. Parfrey;S. Somlo;P. S. St George-Hyslop
通讯作者：
Y. Pei;N. He;K. Wang;M. Kasenda;A. Paterson;G. Chan;Y. Liang;J. Roscoe;J. Brissenden;D. Hefferton;P. Parfrey;S. Somlo;P. S. St George-Hyslop
中国常染色体显性多囊肾病人群中新型 PKD1 和 PKD2 突变的鉴定。
影响因子：
4.6
作者：
Liu B;Chen SC;Yang YM;Yan K;Qian YQ;Zhang JY;Hu YT;Dong MY;Jin F;Huang HF;Xu CM
通讯作者：
Xu CM
DOI：
10.1073/pnas.1517066113
发表时间：
2016-04-26
影响因子：
11.1
作者：
Pavel, Mahmud Arif;Lv, Caixia;Yu, Yong
通讯作者：
Yu, Yong